GSD type II:: Description of four novel mutations causing acid α-glucosidase deficiency.

被引：0
|
作者：
Bali, D [1 ]
McVie-Wylie, AJ [1 ]
Lowery, M [1 ]
Faulkner, E [1 ]
Lamson, D [1 ]
Chen, YT [1 ]
机构：
[1] Duke Univ, Med Ctr, Div Med Genet, Durham, NC 27710 USA
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 69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：
2706
引用
收藏
页码：641 / 641
页数：1
相关论文
共 50 条
  • [31] Non-pseudogene-derived complex acid β-glucosidase mutations causing mild type 1 and severe type 2 Gaucher disease
    Grace, ME
    Ashton-Prolla, P
    Pastores, GM
    Soni, A
    Desnick, RJ
    JOURNAL OF CLINICAL INVESTIGATION, 1999, 103 (06): : 817 - 823
  • [32] Band 3 foggia and band 3 napoli: Frameshift mutations causing hereditary spherocytosis with band 3 deficiency.
    delGiudice, EM
    Alloisio, N
    Vallier, A
    Perrotta, S
    Cutillo, S
    Iolascon, A
    Delaunay, J
    BLOOD, 1995, 86 (10) : 2510 - 2510
  • [33] Pathogenesis of membranoproliferative glomerulonephritis (MPGN) type II in porcine factor H deficiency.
    Jansen, JH
    Hogasen, K
    Grondahl, AM
    Mollnes, TE
    Harboe, M
    KIDNEY INTERNATIONAL, 1996, 49 (03) : 928 - 928
  • [34] THE FREQUENCY OF TYPE-II AND TYPE-III MUTATIONS CAUSING FACTOR-XI DEFICIENCY IN THE GENERAL JEWISH POPULATION
    SELIGSOHN, U
    WEISS, E
    KULKA, T
    EICHEL, R
    ZWANG, E
    PERETZ, H
    THROMBOSIS AND HAEMOSTASIS, 1993, 69 (06) : 1296 - 1296
  • [35] Modelling and expression studies of two novel mutations causing factorV deficiency
    Delev, Daniel
    Pavlova, Anna
    Heinz, Stefan
    Blaise, Mathias Costa
    Chandra, Tamir
    Poetsch, Bernd
    Seifried, Erhard
    Oldenburg, Johannes
    THROMBOSIS AND HAEMOSTASIS, 2008, 100 (05) : 766 - 772
  • [36] Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families
    Pang, Qianqian
    Qi, Xuan
    Jiang, Yan
    Wang, Ou
    Li, Mei
    Xing, Xiaoping
    Dong, Jin
    Xia, Weibo
    METABOLIC BRAIN DISEASE, 2015, 30 (04) : 989 - 997
  • [37] Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families
    Qianqian Pang
    Xuan Qi
    Yan Jiang
    Ou Wang
    Mei Li
    Xiaoping Xing
    Jin Dong
    Weibo Xia
    Metabolic Brain Disease, 2015, 30 : 989 - 997
  • [38] CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - STRUCTURE OF THE GENE AND CHARACTERIZATION OF 2 NOVEL DISEASE-CAUSING MUTATIONS
    VERDERIO, E
    CAVADINI, P
    MONTERMINI, L
    WANG, HW
    LAMANTEA, E
    FINOCCHIARO, G
    DIDONATO, S
    GELLERA, C
    TARONI, F
    HUMAN MOLECULAR GENETICS, 1995, 4 (01) : 19 - 29
  • [39] Two novel mutations in the ColQ gene causing endplate acetylcholinesterase deficiency
    Ishigaki, K
    Nicolle, D
    Krejci, E
    Osawa, M
    Guicheney, P
    Koenig, J
    Fardeau, M
    Eymard, B
    Hantaï, D
    NEUROMUSCULAR DISORDERS, 2001, 11 (6-7) : 666 - 667
  • [40] Identification of novel mutations causing congenital factor XIII deficiency in Pakistan
    Borhany, M.
    Handrkova, H.
    Cairo, A.
    Schroeder, V
    Amanat, S.
    Naz, A.
    Shamsi, T.
    Peyvandi, F.
    Kohler, H. P.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2013, 11 : 809 - 809
12345