Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases

Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases

Item
http://www.wikidata.org/entity/Q24676605
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvementDetection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencingRecent advances and future prospects in choroideremiaMicrodeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferaseHigh-resolution images of retinal structure in patients with choroideremia.AAV-mediated gene therapy for choroideremia: preclinical studies in personalized models.Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia.Noncell-autonomous photoreceptor degeneration in a zebrafish model of choroideremia.MERTK signaling in the retinal pigment epithelium regulates the tyrosine phosphorylation of GDP dissociation inhibitor alpha from the GDI/CHM family of RAB GTPase effectors.A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency.Pathogenic mechanisms and the prospect of gene therapy for choroideremia.Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy.Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia.Diagnosis for choroideremia in a large Chinese pedigree by next‑generation sequencing (NGS) and non‑invasive prenatal testing (NIPT).Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands.The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy.
P2860

Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases

Item
http://www.wikidata.org/entity/Q24676605
description
1990 nî lūn-bûn
@nan
1990 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Deletions in patients with cla ...... rom 45 kb to several megabases
@ast
Deletions in patients with cla ...... rom 45 kb to several megabases
@en
Deletions in patients with cla ...... rom 45 kb to several megabases
@nl
type
label
Deletions in patients with cla ...... rom 45 kb to several megabases
@ast
Deletions in patients with cla ...... rom 45 kb to several megabases
@en
Deletions in patients with cla ...... rom 45 kb to several megabases
@nl
prefLabel
Deletions in patients with cla ...... rom 45 kb to several megabases
@ast
Deletions in patients with cla ...... rom 45 kb to several megabases
@en
Deletions in patients with cla ...... rom 45 kb to several megabases
@nl
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932
P1433
P1476
Deletions in patients with cla ...... rom 45 kb to several megabases
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932