Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.
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Role of Nuclear Receptors in Central Nervous System Development and Associated DiseasesNovel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese familyWhole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation Pathways to Autism Spectrum DisordersCHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development.Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reportsNovel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature
P2860
Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.
description
2014 nî lūn-bûn
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name
Novel splice-site and missense ...... e anophthalmia/microphthalmia.
@en
Novel splice-site and missense ...... e anophthalmia/microphthalmia.
@nl
type
label
Novel splice-site and missense ...... e anophthalmia/microphthalmia.
@en
Novel splice-site and missense ...... e anophthalmia/microphthalmia.
@nl
prefLabel
Novel splice-site and missense ...... e anophthalmia/microphthalmia.
@en
Novel splice-site and missense ...... e anophthalmia/microphthalmia.
@nl
P2093
P2860
P1476
Novel splice-site and missense ...... e anophthalmia/microphthalmia.
@en
P2093
Akgün Olmez
Ali Koçyiğit
Bayram Toraman
C Nur Semerci
Cem Yıldırım
Ersan Kalay
Lale Satıroğlu-Tufan
Nurten A Akarsu
Tuba Dinçer
Yunus Bulgu
P2860
P304
P356
10.1136/BJOPHTHALMOL-2013-304058
P407
P50
P577
2014-02-25T00:00:00Z