A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.
about
Anophthalmia and microphthalmiaGDF6, a novel locus for a spectrum of ocular developmental anomaliesMutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from QatarFirst implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotypeGenetics of population isolates.To investigate the necessity of STRA6 upregulation in T cells during T cell immune responses.National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.Ocular coloboma: a reassessment in the age of molecular neuroscience.A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.The familial contribution to non-syndromic ocular coloboma in south IndiaUnilateral Autosomal Recessive Anophthalmia in a Patient with Cystic Craniopharyngioma.Genetic heritability of a shallow anterior chamber in Chinese families with primary angle closure glaucoma.Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12-q15 and refinement to a 4.4 Mb region.Homozygosity mapping in an anophthalmic pedigree provides evidence of additional genetic heterogeneity.Unilateral isolated microphthalmia inherited as an autosomal recessive trait.
P2860
Q21202957-983A8706-3949-4174-8823-8F43068902AFQ24680270-172925A3-0B7D-4164-AE17-04CB581A7DB4Q28238442-14408F2D-6B93-46F9-8831-62821C64A466Q28247493-437CEDD6-C6A1-48A0-85AD-7AD64AAFA931Q34657331-8B717447-D0F9-4469-BC03-61EEB46AD093Q35082352-293343E8-12B3-4F8F-919D-80FC62A6E522Q35438112-8BB13193-E53C-411F-AF3D-BF42326FBD4EQ35444452-598D2AC4-8D43-42C9-8748-1060D15F3333Q35590528-A128579D-BC00-41E4-857D-62359BBB1135Q35590715-A6577BE9-19BA-4867-B742-F302A21B66E3Q37439786-7033BB49-BB06-416D-A8C9-439E818F2E98Q46133032-C0656479-5000-4280-8E19-A71619B88CDCQ46529868-187F8BCB-372D-4DFA-A714-14CC460A6EC6Q47768210-D879D2D7-E58A-4696-9D59-C6840558BDCDQ51821857-18A31D30-F6EF-4B3B-BFCD-D62DC9252BE2Q51828275-055C8BC2-49E0-42B5-9B92-D9081F877866
P2860
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.
description
2000 nî lūn-bûn
@nan
2000 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հոտեմբերին 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
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.
@ast
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.
@en
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.
@nl
type
label
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.
@ast
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.
@en
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.
@nl
prefLabel
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.
@ast
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.
@en
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.
@nl
P2093
P2860
P356
P1476
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.
@en
P2093
Alloisio N
Lambert JC
Philippe C
Raas-Rothschild A
P2860
P304
P356
10.1086/316894
P407
P577
2000-10-13T00:00:00Z