Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.
about
Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in miceSevere retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR geneApplication of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative diseaseCiliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopiaCell replacement and visual restoration by retinal sheet transplantsGender specific issues in hereditary ocular disorders.Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.An activating mutation in the CRHR1 gene is rarely associated with pituitary-dependent hyperadrenocorticism in poodles.Clinical and Electrophysiologic Characteristics of a Large Kindred with X-Linked Retinitis Pigmentosa Associated with the RPGR Locus.Early-Onset X-Linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene.
P2860
Q28267539-70C8B11F-E7B7-40F8-8BE2-DB04173327B2Q34217069-EAD04EC6-4878-458A-8E6C-DAE9E8AD199AQ35703002-2A0C666D-91D8-4349-B40D-EE5C49C9A7E7Q36232633-A31C26EF-A27C-41D8-A6C7-4D98EC97E40CQ36467228-AE57F9CE-5876-45AB-87D3-2380BFD7795FQ37336144-3D654D89-D82D-4A2B-BC3A-AABD937B74DDQ37519162-1C8027D5-D567-4811-B466-A176539B3D53Q38024553-F47059EF-53C4-4569-9D7F-DF703A4FA15CQ38229062-796F8EFF-C7AC-438B-9DD9-D02210E1B943Q38258973-A743DFAE-9B8D-4920-8D8D-C6F9D99D022AQ45079392-9B9A4F91-8AA5-4567-A123-96F2A44933ACQ51159050-1CAE6ADC-8757-4736-A64B-FB68B28A0DBCQ51168173-CF5B50C1-495E-49ED-8099-B74A958272F3
P2860
Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.
description
2009 nî lūn-bûn
@nan
2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.
@ast
Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.
@en
Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.
@nl
type
label
Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.
@ast
Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.
@en
Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.
@nl
prefLabel
Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.
@ast
Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.
@en
Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.
@nl
P2093
P2860
P356
P1433
P1476
Long-term follow-up of a family with dominant X-linked retinitis pigmentosa.
@en
P2093
J R Heckenlively
P A Sieving
P Atmaca-Sonmez
P2860
P2888
P304
P356
10.1038/EYE.2009.270
P577
2009-11-06T00:00:00Z
P5875
P6179
1051494536