A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia

A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia

Item
http://www.wikidata.org/entity/Q28276644
Life cycle of connexins in health and diseaseGap junctions in inherited human disorders of the central nervous system.A dominant loss-of-function GJA1 (Cx43) mutant impairs parturition in the mouseDepression of intraocular pressure following inactivation of connexin43 in the nonpigmented epithelium of the ciliary bodySyndromic and non-syndromic disease-linked Cx43 mutations.Gene expression and functional annotation of the human ciliary body epithelia.A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.Role of connexins and pannexins during ontogeny, regeneration, and pathologies of boneNovel mutations in GJA1 cause oculodentodigital syndromeOogenesis defects in a mutant mouse model of oculodentodigital dysplasia.Connexins and Pannexins in Bone and Skeletal Muscle.Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.
P2860

A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia

Item
http://www.wikidata.org/entity/Q28276644
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia
@ast
A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia
@en
A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia
@nl
type
label
A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia
@ast
A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia
@en
A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia
@nl
prefLabel
A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia
@ast
A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia
@en
A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia
@nl
P1433
P1476
P2093
P304
P31
P3181
P356
P407
P433
P478
P577
P5875
P698
P3181
P356
P1433
P1476
A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia
@en
P2093
P304
P31
P3181
P356
10.1001/ARCHOPHT.123.10.1422
P407
P433
P478
P577
P5875
P698