HEMOPHILIA-A - DATABASE OF NUCLEOTIDE SUBSTITUTIONS, DELETIONS, INSERTIONS AND REARRANGEMENTS OF THE FACTOR-VIII GENE, 2ND EDITION

被引：77

作者：

TUDDENHAM, EGD

SCHWAAB, R

SEEHAFER, J

MILLAR, DS

GITSCHIER, J

HIGUCHI, M

BIDICHANDANI, S

CONNOR, JM

HOYER, LW

YOSHIOKA, A

PEAKE, IR

OLEK, K

KAZAZIAN, HH

LAVERGNE, JM

GIANNELLI, F

ANTONARAKIS, SE

COOPER, DN

机构：

[1] THROMBOSIS RES INST, CHARTER MOLEC GENET LAB, LONDON SW3 6LR, ENGLAND

[2] UNIV CALIF SAN FRANCISCO, DEPT MED, SAN FRANCISCO, CA 94143 USA

[3] UNIV CALIF SAN FRANCISCO, HOWARD HUGHES MED INST, SAN FRANCISCO, CA 94143 USA

[4] JOHNS HOPKINS UNIV, BALTIMORE, MD USA

[5] AMER RED CROSS, ROCKVILLE, MD USA

[6] NARA MED UNIV, KASHIHARA, NARA, JAPAN

[7] ROYAL HALLAMSHIRE HOSP, SHEFFIELD S10 2RX, S YORKSHIRE, ENGLAND

[8] UNIV BONN, INST KLIN BIOCHEM, W-5300 BONN, GERMANY

[9] HOP BICETRE, LE KREMLIN BICETRE, FRANCE

[10] GUYS HOSP, LONDON SE1 9RT, ENGLAND

[11] DUNCAN GUTHRIE INST MED GENET, DEPT MED GENET, GLASGOW G3 8SJ, LANARK, SCOTLAND

来源：

NUCLEIC ACIDS RESEARCH | 1994年 / 22卷 / 17期

关键词：

D O I：

10.1093/nar/22.17.3511

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A large number of different mutations in the factor VIII (F8) gene have been identified as a cause of haemophilia A. This compilation lists known single base-pair substitutions, deletions and insertions in the F8 gene and reviews the status of the inversional events which account for a substantial proportion of mutations causing severe haemophilia A.

引用

页码：3511 / 3533

页数：23

共 103 条

[1]

ACQUILA M, 1993, THROMB HAEMOSTASIS, V69, P392

[2] HEMOPHILIA-A DUE TO MUTATIONS THAT CREATE NEW N-GLYCOSYLATION SITES [J].