Further characterization of Wilson disease in Taiwan: identification of two novel mutations and high correlation between haplotype and mutation.

被引：0
|
作者：
Wu, JY
Tsai, FJ
Lee, CC
Chang, JG
Tsai, CH
机构：
[1] China Med Coll Hosp, Dept Med Res, Taichung, Taiwan
[2] China Med Coll Hosp, Dept Pediat, Taichung, Taiwan
[3] China Med Coll Hosp, Dept Neurol, Taichung, Taiwan
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：
2453
引用
收藏
页码：A432 / A432
页数：1
相关论文
共 42 条
  • [21] Molecular analysis of two patients with 3-hydroxy-methyl-glutaric aciduria: identification of three novel mutations including one de novo mutation.
    Wu, JY
    Yang, CF
    Tsai, FJ
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 473 - 473
  • [22] Mutation analysis of Wilson disease in the Spanish population -: identification of a prevalent substitution and eight novel mutations in the ATP7B gene
    Margarit, E
    Bach, V
    Gómez, D
    Bruguera, M
    Jara, P
    Queralt, R
    Ballesta, F
    CLINICAL GENETICS, 2005, 68 (01) : 61 - 68
  • [23] Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation
    Sinitdhorn Rujirabanjerd
    John Nelson
    Patrick S Tarpey
    Anna Hackett
    Sarah Edkins
    F Lucy Raymond
    Charles E Schwartz
    Gillian Turner
    Shigeki Iwase
    Yang Shi
    P Andrew Futreal
    Michael R Stratton
    Jozef Gecz
    European Journal of Human Genetics, 2010, 18 : 330 - 335
  • [24] Identification of two novel mutations leading to MYH9-related disease and its correlation of genotype/phenotype
    Siqueira, L. H.
    Duarte, V. O.
    Medina, S.
    Ozelo, M. C.
    JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2013, 11 : 404 - 404
  • [25] Molecular analysis of GM1-gangliosidosis: identification and characterization of four novel mutations in two Taiwan Chinese patients.
    Tsai, FJ
    Yang, CF
    Wu, JY
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 485 - 485
  • [26] Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation
    Rujirabanjerd, Sinitdhorn
    Nelson, John
    Tarpey, Patrick S.
    Hackett, Anna
    Edkins, Sarah
    Raymond, F. Lucy
    Schwartz, Charles E.
    Turner, Gillian
    Iwase, Shigeki
    Shi, Yang
    Futreal, P. Andrew
    Stratton, Michael R.
    Gecz, Jozef
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2010, 18 (03) : 330 - 335
  • [27] Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene:: Haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients
    Gort, L
    Coll, MJ
    Chabás, A
    HUMAN MUTATION, 1999, 14 (03) : 240 - 248
  • [28] Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients:: genotype
    Kumar, S
    Thapa, BR
    Kaur, G
    Prasad, R
    CLINICAL GENETICS, 2005, 67 (05) : 443 - 445
  • [29] Identification of three novel mutations in Japanese patients with Menkes disease and mutation screening by denaturing high performance liquid chromatography
    Watanabe, A
    Shimizu, N
    PEDIATRICS INTERNATIONAL, 2005, 47 (01) : 1 - 6
  • [30] Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene
    de Bem, Ricardo Schmitt
    Raskin, Salmo
    Muzzillo, Dominique Araujo
    Deguti, Marta Mitiko
    Rachid Cancado, Eduardo Luiz
    Araujo, Thiago Ferreira
    Nakhle, Maria Cristina
    Barbosa, Egberto Reis
    Munhoz, Renato Puppi
    Ghizoni Teive, Helio Afonso
    ARQUIVOS DE NEURO-PSIQUIATRIA, 2013, 71 (08) : 503 - 507
12345