Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.
about
Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degenerationWhole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern IrelandInteractome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.Diverse clinical phenotypes associated with a nonsense mutation in FAM161AClinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
P2860
Q28511973-AB96998C-D98E-47EC-B4DA-9529D3275D99Q34976923-D62ABAA2-82BA-4934-888D-2FD5C7A38471Q35141770-B21B3199-2604-4292-820D-B2BDDA4B6C9EQ35573454-DB8BEA15-1D5A-41AB-89CF-70E11B15878FQ35862223-CAF1CCB3-C782-4EE0-A047-E5D8374277A7Q36048862-73A09877-73F2-441D-89CA-8025F3F5D199Q52647919-1287A084-5E69-43DB-B4BC-9B31B79A3F8F
P2860
Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.
description
2014 nî lūn-bûn
@nan
2014 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մարտին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Molecular genetics of FAM161A ...... ly-onset retinitis pigmentosa.
@ast
Molecular genetics of FAM161A ...... ly-onset retinitis pigmentosa.
@en
type
label
Molecular genetics of FAM161A ...... ly-onset retinitis pigmentosa.
@ast
Molecular genetics of FAM161A ...... ly-onset retinitis pigmentosa.
@en
prefLabel
Molecular genetics of FAM161A ...... ly-onset retinitis pigmentosa.
@ast
Molecular genetics of FAM161A ...... ly-onset retinitis pigmentosa.
@en
P2093
P2860
P1433
P1476
Molecular genetics of FAM161A ...... rly-onset retinitis pigmentosa
@en
P2093
Carol Weigel-DiFranco
Eliot L Berson
Giulia Venturini
Shyana Harper
P2860
P304
P356
10.1371/JOURNAL.PONE.0092479
P407
P577
2014-03-20T00:00:00Z