The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS

被引：26

作者：

Wacey, AI

KemballCook, G

Kazazian, HH

Antonarakis, SE

Schwaab, R

Lindley, P

Tuddenham, EGD

机构：

[1] HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,MRC,CLIN SCI CTR,HAEMOSTASIS RES GRP,LONDON W12 0NN,ENGLAND

[2] THROMBOSIS RES INST,LONDON SW3 6LR,ENGLAND

[3] JOHNS HOPKINS UNIV,BALTIMORE,MD 21205

[4] UNIV GENEVA,SCH MED,DIV MED GENET,CH-1211 GENEVA,SWITZERLAND

[5] CANTONAL HOSP,CH-1211 GENEVA,SWITZERLAND

[6] UNIV BONN,INST KLIN BIOCHEM,D-53105 BONN,GERMANY

[7] DARESBURY LAB,SYNCHROTRON RADIAT DEPT,DARESBURY WA4 9AD,CHESHIRE,ENGLAND

来源：

NUCLEIC ACIDS RESEARCH | 1996年 / 24卷 / 01期

关键词：

D O I：

10.1093/nar/24.1.100

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：

In order to facilitate easy access to and aid understanding of the causes of haemophilia A at the molecular level we have constructed HAMSTeRS, the third release of the factor VIII mutation database and the first release of this database that may be accessed and interrogated over the internet through a World Wide Web browser. The database also presents a review of the structure and function of factor VIII and the molecular genetics of haemophilia A, a real time update of the biostatistics of each parameter in the database, a molecular model of the Al, A2 and A3 domains of the factor VIII protein (based on the crystal structure of caeruloplasmin) and a bulletin board for discussion of issues in the molecular biology of factor VIII.

引用

页码：100 / 102

页数：3

共 10 条

[1] MOLECULAR ETIOLOGY OF FACTOR-VIII DEFICIENCY IN HEMOPHILIA-A [J].