MOLECULAR AND STRUCTURAL ANALYSIS OF SIX NONSENSE MUTATIONS IN MUT METHYLMALONIC ACIDEMIA PATIENTS INCLUDING TWO NOVEL NONSENSE MUTATIONS

被引：0

作者：

Dundar, H. ^{[1
]}

Ozgul, R. K. ^{[1
]}

Unal, O. ^{[1
]}

Karaca, M. ^{[2
]}

Aydin, H., I ^{[3
]}

Tokatli, A. ^{[1
]}

Sivri, H. S. ^{[1
]}

Coskun, T. ^{[1
]}

Dursun, A. ^{[1
]}

机构：

[1] Hacettepe Univ, Metab Uni, Dept Ped, Ankara, Turkey

[2] Aksaray Univ, Dept Biol, Aksaray, Turkey

[3] GATA, Metab Unit, Ankara, Turkey

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2010年 / 33卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：S177 / S177

页数：1

共 50 条

[31] Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria:: Identification of seven novel mutations
Lempp, Thomas J.
Suormala, Terttu
Siegenthaler, Renate
Baumgartner, E. Regula
Fowler, Brian
Steinmann, Beat
Baumgartner, Matthias R.
MOLECULAR GENETICS AND METABOLISM, 2007, 90 (03) : 284 - 290
[32] Identification of two novel mutations (1448delA and Q682X) in the NF1 gene and analysis for nonsense mutations in patients with neurofibromatosis type 1
Horiuchi, T
Hatta, N
Watanabe, I
Kobayashi, Y
Wallace, MR
Shirakata, Y
Ohtsuka, H
Fujita, S
HUMAN MUTATION, 1998, : S47 - S49
[33] Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history
Luyckx, I.
Proost, D.
Hendriks, J. M. H.
Saenen, J.
Van Craenenbroeck, E. M.
Vermeulen, T.
Peeters, N.
Wuyts, W.
Rodrigus, I.
Verstraeten, A.
Van Laer, L.
Loeys, B. L.
CLINICAL GENETICS, 2017, 92 (04) : 444 - 446
[34] Extreme Phenotypes, Identical Mutations: Two Patients with Same Nonsense XLF/Cernunnos Homozygous Mutation
Gonzalez-Granado, Luis I.
Dominguez-Pinilla, Nerea
Soledad Perrig, Melina
Rodriguez-Vigil, Carmen
Salmon-Rodriguez, Nerea
Martinez Faci, Cristina
Blas-Espada, Javier
Lopez-Nevado, Marta
Ruiz-Garcia, Raquel
Chaparro, Rebeca
Allende, Luis
Recio Hoyas, Maria Jose
JOURNAL OF CLINICAL IMMUNOLOGY, 2019, 39 : S15 - S16
[35] Molecular and structural analysis of two novel STAR mutations in patients with lipoid congenital adrenal hyperplasia
Achermann, JC
Meeks, JJ
Jeffs, B
Das, U
Clayton, PE
Brook, CGD
Jameson, JL
MOLECULAR GENETICS AND METABOLISM, 2001, 73 (04) : 354 - 357
[36] Identification of two novel nonsense mutations in the transglutaminase 1 gene in a Hungarian patient with congenital ichthyosiform erythroderma
Becker, K
Csikós, M
Sárdy, M
Szalai, Z
Horváth, A
Kárpáti, S
EXPERIMENTAL DERMATOLOGY, 2003, 12 (03) : 324 - 329
[37] Novel mutations in the human red cell pyruvate kinase gene: Two promoter mutations in CIS, a splice site mutation, a nonsense- and three missense mutations.
vanSolinge, WW
vanWijk, HA
Kraaijenhagen, RJ
Rijksen, G
Nielsen, FC
BLOOD, 1997, 90 (10) : 1197 - 1197
[38] Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations
Chu, Jordan
Pupavac, Mihaela
Watkins, David
Tian, Xia
Feng, Yanming
Chen, Stella
Fenter, Remington
Zhang, Victor W.
Wang, Jing
Wong, Lee-Jun
Rosenblatt, David S.
MOLECULAR GENETICS AND METABOLISM, 2016, 118 (04) : 264 - 271
[39] Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens
Radpour, Ramin
Gourabi, Hamid
Gilani, Mohamad A. Sadighi
Dizaj, Ahmad Vosough
Rezaee, Mina
Mollamohamadi, Sepideh
MOLECULAR HUMAN REPRODUCTION, 2006, 12 (11) : 717 - 721
[40] Lack of detection of novel nonsense mutations on exon 3 of hemochromatosis gene in patients with hepatic iron overload
Rosa, I
De Roux, N
Pelletier, G
Lazure, T
Chousterman, M
Buffet, C
JOURNAL OF HEPATOLOGY, 2004, 40 (01) : 182 - 183

← 1 2 3 4 5 →