CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient

被引：5
|
作者：
Kwok, Jeffrey Sung-Shing [1 ]
Fung, Simon Loi-Mo [1 ]
Lui, Grace Chung-Yan [2 ]
Law, Eric Lap-Kay [1 ]
Chan, Michael Ho-Ming [1 ]
Leung, Chi-Bon [2 ]
Tang, Nelson Leung-Sang [1 ]
机构：
[1] Chinese Univ Hong Kong, Dept Chem Pathol, Hong Kong, Hong Kong, Peoples R China
[2] Prince Wales Hosp, Dept Med & Therapeut, Hong Kong, Hong Kong, Peoples R China
来源：
PATHOLOGY | 2011年 / 43卷 / 01期
关键词：
BETA-SYNTHASE DEFICIENCY;
D O I：
10.1097/PAT.0b013e3283419dbb
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
引用
收藏
页码：81 / 83
页数：3
相关论文
共 50 条
  • [21] A Novel MT-TW Gene Mutation Associated with Suspected Pyridoxine-Responsive Epilepsy
    Elaasar, H.
    Tuttrup, G.
    Pence, K.
    ANNALS OF NEUROLOGY, 2025, 96 : S105 - S105
  • [22] PYRIDOXINE-RESPONSIVE EPILEPSY APPEARS NOT TO BE CAUSED BY MUTATIONS IN THE GAD1 OR GAD2 GENES
    BU, DF
    CHRISTODOULOU, J
    MURRELL, MJ
    PLODER, L
    GIBSON, W
    TOBIN, AJ
    MCINNES, RR
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1010 - 1010
  • [23] CONGENITAL SIDEROBLASTIC ANEMIA - CORRELATION OF THE MICROCYTIC, PYRIDOXINE-RESPONSIVE PHENOTYPE WITH CODING REGION MUTATIONS IN THE ERYTHROID DELTA-AMINOLEVULINATE SYNTHASE GENE
    COTTER, PD
    BISHOP, DF
    AMERICAN JOURNAL OF HUMAN GENETICS, 1993, 53 (03) : 145 - 145
  • [24] A novel mutation of the erythroid-specific δ-aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia
    Harigae, H
    Furuyama, K
    Kudo, K
    Hayashi, N
    Yamamoto, M
    Sassa, S
    Sasaki, T
    AMERICAN JOURNAL OF HEMATOLOGY, 1999, 62 (02) : 112 - 114
  • [25] AFFINITY OF CYSTATHIONINE BETA-SYNTHASE (CS) FOR PYRIDOXAL 5'-PHOSPHATE (PLP) IN CULTURED-CELLS - MECHANISM FOR PYRIDOXINE-RESPONSIVE HOMOCYSTINURIA
    LIPSON, M
    KRAUS, J
    ROSENBERG, LE
    AMERICAN JOURNAL OF HUMAN GENETICS, 1979, 31 (06) : A53 - A53
  • [26] Identification and Functional Analysis of Two Novel Mutations in the CBS Gene in Polish Patients with Homocystinuria
    Orendac, Marek
    Pronicka, Ewa
    Kubalska, Jolanta
    Janosik, Miroslav
    Sokolova, Jitka
    Linnebank, Michael
    Koch, Hans Georg
    Kozich, Viktor
    HUMAN MUTATION, 2004, 23 (06) : 631 - +
  • [27] Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry
    Gregory J. Basura
    Shawn P. Hagland
    Anna M. Wiltse
    Sidney M. Gospe
    European Journal of Pediatrics, 2009, 168 : 697 - 704
  • [28] Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry
    Basura, Gregory J.
    Hagland, Shawn P.
    Wiltse, Anna M.
    Gospe, Sidney M., Jr.
    EUROPEAN JOURNAL OF PEDIATRICS, 2009, 168 (06) : 697 - 704
  • [29] MOLECULAR ANALYSIS OF CYSTATIONINE BETA-SYNTHASE (CBS) GENE MUTATIONS IN SLOVENIAN PATIENTS WITH HOMOCYSTINURIA
    Tansek, Zerjav M.
    Hovnik, T.
    Dolzan, V
    Repic-Lampret, B.
    Battelino, T.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S37 - S37
  • [30] Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients
    Aral, B
    Coude, M
    London, J
    Aupetit, J
    Chasse, JF
    Zabot, MT
    ChadefauxVekemans, B
    Kamoun, P
    HUMAN MUTATION, 1997, 9 (01) : 81 - 82
12345