Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population
about
Notch ligands are substrates for protein O-fucosyltransferase-1 and FringeSpectrum of JAG1 gene mutations in Polish patients with Alagille syndromeJagged1 mutations in alagille syndrome.JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome.Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.Transcription factor pathways and congenital heart disease.JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.Functional analysis of the Notch ligand Jagged1 missense mutant proteins underlying Alagille syndrome.
P2860
Q28201516-9D65445A-E069-4D5E-A780-57AA3602F280Q33917493-75E1985F-33ED-4D48-9906-1BFA7B58B672Q34119231-149B9D2D-0140-419F-9E08-70BFBD78B7BFQ35664014-AF957B8D-D43A-497F-96FC-A55E3F364BB2Q37362001-B8A7CB10-BC85-4BAE-B85D-3B8EB40AA02BQ37997218-B119E23E-86CE-4801-9D55-5E9578FD2642Q46200289-C4179176-0D1F-462F-ADC2-27347AF0F684Q53166957-51595C27-F9FA-4581-97A8-5A2B26D9BF5CQ53175186-CAE07F27-995A-4F59-B56B-BA840956C2A2
P2860
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population
description
2000 nî lūn-bûn
@nan
2000 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population
@ast
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population
@en
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population
@nl
type
label
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population
@ast
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population
@en
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population
@nl
prefLabel
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population
@ast
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population
@en
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population
@nl
P2093
P2860
P1433
P1476
Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population
@en
P2093
G J Anderson
J C MacMillan
M L Heritage
N B Spinner
R P Colliton
P2860
P304
P356
10.1002/1098-1004(200011)16:5<408::AID-HUMU5>3.0.CO;2-9
P407
P577
2000-11-01T00:00:00Z