Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11.

about

Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11.

Item

http://www.wikidata.org/entity/Q41900678

description

2013 nî lūn-bûn

@nan

2013年の論文

@ja

2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

2013年论文

@zh

2013年论文

@zh-cn

name

Mutation detection in cholesta ...... quencing of ATP8B1 and ABCB11.

@en

type

Item

label

Mutation detection in cholesta ...... quencing of ATP8B1 and ABCB11.

@en

prefLabel

Mutation detection in cholesta ...... quencing of ATP8B1 and ABCB11.

@en

P1476

Mutation detection in cholesta ...... quencing of ATP8B1 and ABCB11.

@en

P2093

A S Knisely

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

Christopher K Bruce

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

Deidre A Kelly

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

Ekkehard Sturm

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

Fiona Macdonald

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

Jane L Hartley

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

Kirsten E McKay

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

Sonja-Stephanie Bockisch

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

Ulrich Baumann

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

P2860

A missense mutation in FIC1 is associated with greenland familial cholestasis

Characterization of mutations in ATP8B1 associated with hereditary cholestasis

Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11

Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing

Differences in presentation and progression between severe FIC1 and BSEP deficiencies.

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

ABCB11 gene mutations in Chinese children with progressive intrahepatic cholestasis and low gamma glutamyltransferase.

Design and validation of a metabolic disorder resequencing microarray (BRUM1).

Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis

Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.

P304

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

P31

scholarly article

P356

10.12688/F1000RESEARCH.2-32.V2

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

P478

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

P50

Paul Gissen

Chris Hendriksz

P577

2013-02-06T00:00:00Z

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

P698

24627769

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

P932

3907151

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