Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases
about
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
Q24635141-573FFF2E-1511-401F-9EF7-975D1A434969Q24670293-21FD3E65-53A1-4DC5-9228-97F63FCDA1BDQ26773223-8175DC55-07D9-4715-8EDD-91EC153D121BQ30501626-F871399B-A27A-4716-BCC7-1EF6BB12FF01Q30502692-4A2D53B7-DA0B-43FC-AEF1-F91F3B5B9FF7Q31110626-A69A7DF5-DC57-4B04-9BBD-569924495CD9Q34716958-3BC85B9E-79C1-4D4F-BAB0-AC0F41634F17Q35411026-1CFB6A94-B7E5-4A88-9B3B-EB6461A4964AQ35663531-8B7135EA-9002-479E-8194-760167B3C293Q35748292-B05C9FFB-C3DF-448D-B959-38750D4CFF1EQ35760584-3F258D9C-1DD6-4F60-BD78-AA8744601CCBQ35910610-173DEB22-06D1-437A-96D9-4E12706D2E70Q36903002-6923D342-F57E-43D7-8BD8-DB75C0E925F5Q37661650-707653F8-5E5D-4A8B-8D4A-FA9999F2236CQ37722183-42F337AD-CC86-4BB3-B9B3-4159395463E7Q42662348-D3D2F707-0E50-44F6-AD63-2DEF16173EFFQ55025407-4809CFEE-BE81-4B43-8AC5-9B86CDCFE51E
P2860
Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases
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
P2093
P2860
P1476
Deletions in patients with cla ...... rom 45 kb to several megabases
@en
P2093
A J Pinckers
B Wieringa
D J van de Pol
E M Sankila
F Brunsmann
F P Cremers
M Schwartz
P2860
P407
P577
1990-10-01T00:00:00Z