首页 | 本学科首页   官方微博 | 高级检索  
     


Genotype-phenotype correlation of the Wilson disease ATP7B gene
Authors:Leggio Lorenzo  Addolorato Giovanni  Loudianos Georgios  Abenavoli Ludovico  Gasbarrini Giovanni
Abstract:
Keywords:
本文献已被 PubMed 等数据库收录!
相似文献(共20条):
[1]、Panagiotakaki E,Tzetis M,Manolaki N,Loudianos G,Papatheodorou A,Manesis E,Nousia-Arvanitakis S,Syriopoulou V,Kanavakis E.Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)[J].American journal of medical genetics. Part A,2004,131(2):168-173.
[2]、Deguti MM,Genschel J,Cancado EL,Barbosa ER,Bochow B,Mucenic M,Porta G,Lochs H,Carrilho FJ,Schmidt HH.Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients[J].Human mutation,2004,23(4):398.
[3]、Vrabelova S,Letocha O,Borsky M,Kozak L.Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease[J].Molecular genetics and metabolism,2005,86(1-2):277-285.
[4]、New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease[J].European journal of medical genetics
[5]、Kusuda Y,Hamaguchi K,Mori T,Shin R,Seike M,Sakata T.Novel mutations of the ATP7B gene in Japanese patients with Wilson disease[J].Journal of human genetics,2000,45(2):86-91.
[6]、Forbes JR,Cox DW.Copper-dependent trafficking of Wilson disease mutant ATP7B proteins[J].Human molecular genetics,2000,9(13):1927-1935.
[7]、杨春水,梁秀龄,李建英,闫振文,黄帆.Wilson病ATP7B基因启动子区突变对基因表达的影响[J].中华医学遗传学杂志,2005,22(5):566-568.
[8]、Ivanova-Smolenskaya IA,Ovchinnikov IV,Karabanov AV,Deineko NL,Poleshchuk VV,Markova ED,Illarioshkin SN.The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease[J].Journal of medical genetics,1999,36(2):174.
[9]、Panichareon B,Taweechue K,Thongnoppakhun W,Aksornworanart M,Pithukpakorn M,Yenchitsomanus PT,Limwongse C,Limjindaporn T.Six novel ATP7B mutations in Thai patients with Wilson disease[J].European journal of medical genetics,2011,54(2):103-107.
[10]、Abdelghaffar TY,Elsayed SM,Elsobky E,Bochow B,Büttner J,Schmidt H.Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations[J].Journal of human genetics,2008,53(8):681-687.
[11]、Leiah M. Luoma,Taha M.M. Deeb,Georgina Macintyre,Diane W. Cox.Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter,ATP7B[J].Human mutation,2010,31(5):569-577.
[12]、Ozlenen Simsek Papur,Sezin Asik Akman,Raif Cakmur,Orhan Terzioglu.Mutation analysis of ATP7B gene in Turkish Wilson disease patients: Identification of five novel mutations[J].European journal of medical genetics,2013,56(4):175-179.
[13]、Hagar Kalinsky,Adina Funes,Alina Zeldin,Yehuda Pel-Or,Misha Korostishevsky,Ruth Gershoni-Baruch,Lindsay A. Farrer,Batsheva Bonne-Tamir.Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups[J].Human mutation,1998,11(2):145-151.
[14]、杨斌,胡纪原,程楠,杨广娥,杨任民.中国人Wilson病ATP7B基因Thr935Met突变与临床表型的关系研究[J].中国优生与遗传杂志,2002,10(4):12-13.
[15]、Olsson C,Waldenström E,Westermark K,Landegre U,Syvänen AC.Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples[J].European journal of human genetics : EJHG,2000,8(12):933-938.
[16]、Kumar S,Thapa BR,Kaur G,Prasad R.Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype[J].Clinical genetics,2005,67(5):443-445.
[17]、Weiss KH,Lozoya JC,Tuma S,Gotthardt D,Reichert J,Ehehalt R,Stremmel W,Füllekrug J.Copper-induced translocation of the Wilson disease protein ATP7B independent of Murr1/COMMD1 and Rab7[J].The American journal of pathology,2008,173(6):1783-1794.
[18]、S Orr,G Thomas,A Loizedda,DW Cox,L Contu.24 bp deletion and Ala1278 to val mutation of the ATP7B gene in a Sardinian family with Wilson disease[J].Human mutation,1997,10(1):84-85.
[19]、赵秀丽,刘彦山,黄尚志,孟岩,孙淼,杨威,张学.应用高分辨熔解曲线技术检测中国人Wilson病的常见基因突变[J].中华医学遗传学杂志,2008,25(5):515-519.
[20]、Harada M,Kawaguchi T,Kumemura H,Terada K,Ninomiya H,Taniguchi E,Hanada S,Baba S,Maeyama M,Koga H,Ueno T,Furuta K,Suganuma T,Sugiyama T,Sata M.The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein[J].The American journal of pathology,2005,166(2):499-510.
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号