首页
学术期刊
论文检测
AIGC检测
热点
更多
数据
Denaturing high performance liquid chromatography (DHPLC) for PMM2 mutation screening in CDG type 1A patients.
被引:0
|
作者
:
Uller, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Gothenburg, Dept Clin Genet, Sahlgrens Univ Hosp, Gothenburg, Sweden
Uller, A
Stibler, H
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Gothenburg, Dept Clin Genet, Sahlgrens Univ Hosp, Gothenburg, Sweden
Stibler, H
Kristiansson, B
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Gothenburg, Dept Clin Genet, Sahlgrens Univ Hosp, Gothenburg, Sweden
Kristiansson, B
Wahlstrom, J
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Gothenburg, Dept Clin Genet, Sahlgrens Univ Hosp, Gothenburg, Sweden
Wahlstrom, J
Martinsson, T
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Gothenburg, Dept Clin Genet, Sahlgrens Univ Hosp, Gothenburg, Sweden
Martinsson, T
机构
:
[1]
Univ Gothenburg, Dept Clin Genet, Sahlgrens Univ Hosp, Gothenburg, Sweden
[2]
Karolinska Hosp, Dept Neurol, S-10401 Stockholm, Sweden
[3]
Sahlgrens Univ Hosp, Dept Pediat, S-41345 Gothenburg, Sweden
来源
:
AMERICAN JOURNAL OF HUMAN GENETICS
|
1999年
/ 65卷
/ 04期
关键词
:
D O I
:
暂无
中图分类号
:
Q3 [遗传学];
学科分类号
:
071007 ;
090102 ;
摘要
:
2320
引用
收藏
页码:A410 / A410
页数:1
相关论文
共 50 条
[1]
Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients
Erlandson, A
论文数:
0
引用数:
0
h-index:
0
机构:
Gothenburg Univ, Sahlgrenska Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden
Erlandson, A
Stibler, H
论文数:
0
引用数:
0
h-index:
0
机构:
Gothenburg Univ, Sahlgrenska Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden
Stibler, H
Kristiansson, B
论文数:
0
引用数:
0
h-index:
0
机构:
Gothenburg Univ, Sahlgrenska Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden
Kristiansson, B
Wahlström, J
论文数:
0
引用数:
0
h-index:
0
机构:
Gothenburg Univ, Sahlgrenska Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden
Wahlström, J
Martinsson, T
论文数:
0
引用数:
0
h-index:
0
机构:
Gothenburg Univ, Sahlgrenska Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden
Gothenburg Univ, Sahlgrenska Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden
Martinsson, T
GENETIC TESTING,
2000,
4
(03):
: 293
-
297
[2]
Use of denaturing high performance liquid chromatography (DHPLC) for connexin 26 gene mutation screening.
Hilbert, P
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Pathol & Genet, Dept Mol Biol, Loverval, Belgium
Inst Pathol & Genet, Dept Mol Biol, Loverval, Belgium
Hilbert, P
Kint, C
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Pathol & Genet, Dept Mol Biol, Loverval, Belgium
Inst Pathol & Genet, Dept Mol Biol, Loverval, Belgium
Kint, C
Van Maldergem, L
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Pathol & Genet, Dept Mol Biol, Loverval, Belgium
Inst Pathol & Genet, Dept Mol Biol, Loverval, Belgium
Van Maldergem, L
Gillerot, Y
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Pathol & Genet, Dept Mol Biol, Loverval, Belgium
Inst Pathol & Genet, Dept Mol Biol, Loverval, Belgium
Gillerot, Y
AMERICAN JOURNAL OF HUMAN GENETICS,
1999,
65
(04)
: A301
-
A301
[3]
Denaturing high performance liquid chromatography (dHPLC) for mutation detection in the nebulin gene
Lehtokari, VL
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Helsinki, Dept Med Genet, Helsinki, Finland
Lehtokari, VL
Pelin, K
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Helsinki, Dept Med Genet, Helsinki, Finland
Pelin, K
Sandbacka, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Helsinki, Dept Med Genet, Helsinki, Finland
Sandbacka, M
Ahola, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Helsinki, Dept Med Genet, Helsinki, Finland
Ahola, A
Turunen, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Helsinki, Dept Med Genet, Helsinki, Finland
Turunen, M
Wallgren-Pettersson, C
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Helsinki, Dept Med Genet, Helsinki, Finland
Wallgren-Pettersson, C
NEUROMUSCULAR DISORDERS,
2005,
15
(9-10)
: 693
-
693
[4]
Tuberous sclerosis 1 (TSC1) gene mutation screening by Denaturing High-Performance Liquid Chromatography (DHPLC).
Allavena, A
论文数:
0
引用数:
0
h-index:
0
机构:
CNR, CIOS, I-10126 Turin, Italy
Allavena, A
Padovan, S
论文数:
0
引用数:
0
h-index:
0
机构:
CNR, CIOS, I-10126 Turin, Italy
Padovan, S
Longa, L
论文数:
0
引用数:
0
h-index:
0
机构:
CNR, CIOS, I-10126 Turin, Italy
Longa, L
Polidoro, S
论文数:
0
引用数:
0
h-index:
0
机构:
CNR, CIOS, I-10126 Turin, Italy
Polidoro, S
Brusco, A
论文数:
0
引用数:
0
h-index:
0
机构:
CNR, CIOS, I-10126 Turin, Italy
Brusco, A
Migone, N
论文数:
0
引用数:
0
h-index:
0
机构:
CNR, CIOS, I-10126 Turin, Italy
Migone, N
AMERICAN JOURNAL OF HUMAN GENETICS,
1999,
65
(04)
: A281
-
A281
[5]
A comparison of β-MHC mutation analysis by SSCP and DHPLC (denaturing high performance liquid chromatography)
Erdmann, J
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hosp, Regensburg, Germany
Erdmann, J
Raible, J
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hosp, Regensburg, Germany
Raible, J
Regitz-Zagrosek, V
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hosp, Regensburg, Germany
Regitz-Zagrosek, V
Kallisch, H
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Hosp, Regensburg, Germany
Kallisch, H
EUROPEAN HEART JOURNAL,
2001,
22
: 636
-
636
[6]
PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families
Bjursell, C
论文数:
0
引用数:
0
h-index:
0
机构:
Sahlgrensks Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden
Bjursell, C
Erlandson, A
论文数:
0
引用数:
0
h-index:
0
机构:
Sahlgrensks Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden
Erlandson, A
Nordling, M
论文数:
0
引用数:
0
h-index:
0
机构:
Sahlgrensks Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden
Nordling, M
Nilsson, S
论文数:
0
引用数:
0
h-index:
0
机构:
Sahlgrensks Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden
Nilsson, S
Wahlström, J
论文数:
0
引用数:
0
h-index:
0
机构:
Sahlgrensks Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden
Wahlström, J
Stibler, H
论文数:
0
引用数:
0
h-index:
0
机构:
Sahlgrensks Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden
Stibler, H
Kristiansson, B
论文数:
0
引用数:
0
h-index:
0
机构:
Sahlgrensks Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden
Kristiansson, B
Martinsson, T
论文数:
0
引用数:
0
h-index:
0
机构:
Sahlgrensks Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden
Sahlgrensks Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden
Martinsson, T
HUMAN MUTATION,
2000,
16
(05)
: 395
-
400
[7]
Evaluation of denaturing high-performance liquid chromatography (DHPLC) in the screening of mutations in hemophilia B patients
Herbert, O
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg & Univ, Hotel Dieu, Serv Genet Med, Nantes, France
Herbert, O
Trossaërt, A
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg & Univ, Hotel Dieu, Serv Genet Med, Nantes, France
Trossaërt, A
Boisseau, P
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg & Univ, Hotel Dieu, Serv Genet Med, Nantes, France
Boisseau, P
Fressinaud, E
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg & Univ, Hotel Dieu, Serv Genet Med, Nantes, France
Fressinaud, E
Gerson, F
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg & Univ, Hotel Dieu, Serv Genet Med, Nantes, France
Gerson, F
JOURNAL OF THROMBOSIS AND HAEMOSTASIS,
2004,
2
(12)
: 2267
-
2269
[8]
Mutation analysis of the entire mitochondrial DNA using Denaturing High Performance Liquid Chromatography (DHPLC).
Smeets, H
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Maastricht, Dept Mol Cell Biol & Gen, Maastricht, Netherlands
Smeets, H
Van den Bosch, B
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Maastricht, Dept Mol Cell Biol & Gen, Maastricht, Netherlands
Van den Bosch, B
Nijland, J
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Maastricht, Dept Mol Cell Biol & Gen, Maastricht, Netherlands
Nijland, J
Scholte, H
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Maastricht, Dept Mol Cell Biol & Gen, Maastricht, Netherlands
Scholte, H
DeDie, C
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Maastricht, Dept Mol Cell Biol & Gen, Maastricht, Netherlands
DeDie, C
Van den Bogaard, R
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Maastricht, Dept Mol Cell Biol & Gen, Maastricht, Netherlands
Van den Bogaard, R
De Visser, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Maastricht, Dept Mol Cell Biol & Gen, Maastricht, Netherlands
De Visser, M
De Coo, I
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Maastricht, Dept Mol Cell Biol & Gen, Maastricht, Netherlands
De Coo, I
AMERICAN JOURNAL OF HUMAN GENETICS,
2000,
67
(04)
: 249
-
249
[9]
Exhaustive mutation analysis of the PMM2 gene in patients with the carbohydrate-deficient glycoprotein syndrome type I (CDG1 or Jaeken syndrome) and cloning of the mouse Pmm1 and Pmm2 genes.
Matthijs, G
论文数:
0
引用数:
0
h-index:
0
机构:
Katholieke Univ Leuven, Ctr Human Genet, B-3001 Louvain, Belgium
Matthijs, G
Schollen, E
论文数:
0
引用数:
0
h-index:
0
机构:
Katholieke Univ Leuven, Ctr Human Genet, B-3001 Louvain, Belgium
Schollen, E
Jaeken, J
论文数:
0
引用数:
0
h-index:
0
机构:
Katholieke Univ Leuven, Ctr Human Genet, B-3001 Louvain, Belgium
Jaeken, J
Van Schaftingen, E
论文数:
0
引用数:
0
h-index:
0
机构:
Katholieke Univ Leuven, Ctr Human Genet, B-3001 Louvain, Belgium
Van Schaftingen, E
Cassiman, JJ
论文数:
0
引用数:
0
h-index:
0
机构:
Katholieke Univ Leuven, Ctr Human Genet, B-3001 Louvain, Belgium
Cassiman, JJ
AMERICAN JOURNAL OF HUMAN GENETICS,
1997,
61
(04)
: A12
-
A12
[10]
Mutation detection of BRCA1 gene from Malaysian breast cancer patients by denaturing high performance liquid chromatography (DHPLC)
Salih, F.
论文数:
0
引用数:
0
h-index:
0
机构:
IIUM, Dept Basic Med Sci, Kuantan, Malaysia
IIUM, Dept Basic Med Sci, Kuantan, Malaysia
Salih, F.
Mustafa, M. I. A.
论文数:
0
引用数:
0
h-index:
0
机构:
IIUM, Dept Basic Med Sci, Kuantan, Malaysia
IIUM, Dept Basic Med Sci, Kuantan, Malaysia
Mustafa, M. I. A.
Amjad, N.
论文数:
0
引用数:
0
h-index:
0
机构:
Int Islamic Univ Malaysia, Dept Surg, Kuantan, Malaysia
IIUM, Dept Basic Med Sci, Kuantan, Malaysia
Amjad, N.
Samad, H.
论文数:
0
引用数:
0
h-index:
0
机构:
IIUM, Breast Ctr, Kuantan, Malaysia
IIUM, Dept Basic Med Sci, Kuantan, Malaysia
Samad, H.
AMINO ACIDS,
2009,
37
(01)
: 98
-
98
←
1
2
3
4
5
→