F8 gene dosage defects in atypical patients with severe haemophilia A.

about

Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.

P2860

Q37102106-42DA6E25-A5D4-4EFF-AA86-34724765ACE4

P2860

F8 gene dosage defects in atypical patients with severe haemophilia A.

Item

http://www.wikidata.org/entity/Q45879258

description

2012 nî lūn-bûn

@nan

2012年の論文

@ja

2012年学术文章

@wuu

2012年学术文章

@zh-cn

2012年学术文章

@zh-hans

2012年学术文章

@zh-my

2012年学术文章

@zh-sg

2012年學術文章

@yue

2012年學術文章

@zh

2012年學術文章

@zh-hant

name

F8 gene dosage defects in atypical patients with severe haemophilia A.

@en

F8 gene dosage defects in atypical patients with severe haemophilia A.

@nl

type

Item

label

F8 gene dosage defects in atypical patients with severe haemophilia A.

@en

F8 gene dosage defects in atypical patients with severe haemophilia A.

@nl

prefLabel

F8 gene dosage defects in atypical patients with severe haemophilia A.

@en

F8 gene dosage defects in atypical patients with severe haemophilia A.

@nl

P1476

F8 gene dosage defects in atypical patients with severe haemophilia A

@en

P2093

A Villar

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

E F Tizzano

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

F Velasco

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

J Rosell

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

M Baena

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

M Baiget

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

R Núñez

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

R P Garrido

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

Á Venceslá

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

P2860

Somatic mosaicism in hemophilia A: a fairly common event.

Familial cases of point mutations in the XIST promoter reveal a correlation between CTCF binding and pre-emptive choices of X chromosome inactivation.

Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.

A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches.

Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A.

Characterization of duplication breakpoints in the factor VIII gene.

MLPA assay in F8 gene mutation screening.

Investigation of disease-associated factors in haemophilia A patients without detectable mutations.

Application of intron 9 and intron 25 dinucleotide repeats of the factor VIII gene for carrier diagnosis in haemophilia A.

Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.

P304

708-713

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

P31

scholarly article

P356

10.1111/J.1365-2516.2012.02818.X

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

P433

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

P478

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

P50

Víctor Jiménez-Yuste

P577

2012-05-23T00:00:00Z

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

P698

22621702

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

P921

hemophilia

hemophilia A

F8 gene dosage defects in atypical patients with severe haemophilia A.

about

P2860

P2860

F8 gene dosage defects in atypical patients with severe haemophilia A.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921