Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform

Item
http://www.wikidata.org/entity/Q36946603
Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencingThe first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.A novel NHS mutation causes Nance-Horan Syndrome in a Chinese family.The status of intercellular junctions in established lens epithelial cell lines.EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMSX-linked cataract and Nance-Horan syndrome are allelic disorders.Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.The Nance-Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.Patterns of gene expression in microarrays and expressed sequence tags from normal and cataractous lensesHigh-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.A novel small deletion in the NHS gene associated with Nance-Horan syndrome.
P2860

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform

Item
http://www.wikidata.org/entity/Q36946603
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Novel causative mutations in p ...... e mutant NHS-A protein isoform
@en
type
label
Novel causative mutations in p ...... e mutant NHS-A protein isoform
@en
prefLabel
Novel causative mutations in p ...... e mutant NHS-A protein isoform
@en
P1433
P1476
P2093
P2860
P304
P31
P478
P50
P577
P698
P932
P1433
P1476
Novel causative mutations in p ...... e mutant NHS-A protein isoform
@en
P2093
P2860
P304
P31
P478
P50
P577
P698
P932