Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions.

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Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease.

P2860

Q37388319-11B6B9E6-7CF7-4EE7-A099-7A8A5E0BAEC8

P2860

Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions.

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http://www.wikidata.org/entity/Q45876597

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1996 nî lūn-bûn

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1996年の論文

@ja

1996年学术文章

@wuu

1996年学术文章

@zh

1996年学术文章

@zh-cn

1996年学术文章

@zh-hans

1996年学术文章

@zh-my

1996年学术文章

@zh-sg

1996年學術文章

@yue

1996年學術文章

@zh-hant

name

Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions.

@en

Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions.

@nl

type

Item

label

Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions.

@en

Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions.

@nl

prefLabel

Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions.

@en

Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions.

@nl

P1476

Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions.

@en

P2093

Schoof JM

http://www.w3.org/2001/XMLSchema#string

Thompson AR

http://www.w3.org/2001/XMLSchema#string

Weinmann AF

http://www.w3.org/2001/XMLSchema#string

P2860

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

An intragenic deletion of the factor IX gene in a family with hemophilia B.

Physical condition, longevity, and social performance of Dutch haemophiliacs, 1972-85.

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions.

Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene.

Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis

Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection.

More than half the sporadic cases of hemophilia A in Sweden are due to a recent mutation.

Possible misdiagnosis using the Xba I polymorphism for prenatal diagnosis of haemophilia A.

Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families.

P304

192-199

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scholarly article

P356

10.1002/(SICI)1096-8652(199603)51:3<192::AID-AJH3>3.0.CO;2-S

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P433

http://www.w3.org/2001/XMLSchema#string

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1996-03-01T00:00:00Z

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P698

8619399

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P921

hemophilia

hemophilia A

Coagulation factor VIII

Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions.

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P2860

P2860

Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions.

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P921