Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
about
Sanfilippo syndrome: causes, consequences, and treatmentsMutations in POMGNT1 cause non-syndromic retinitis pigmentosaarrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesPathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probandsDetailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.
P2860
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P2860
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Non-syndromic retinitis pigmen ...... N-acetyltransferase (HGSNAT).
@ast
Non-syndromic retinitis pigmen ...... N-acetyltransferase (HGSNAT).
@en
type
label
Non-syndromic retinitis pigmen ...... N-acetyltransferase (HGSNAT).
@ast
Non-syndromic retinitis pigmen ...... N-acetyltransferase (HGSNAT).
@en
prefLabel
Non-syndromic retinitis pigmen ...... N-acetyltransferase (HGSNAT).
@ast
Non-syndromic retinitis pigmen ...... N-acetyltransferase (HGSNAT).
@en
P2093
P2860
P356
P1476
Non-syndromic retinitis pigmen ...... e N-acetyltransferase (HGSNAT)
@en
P2093
Amir Massarweh
Anneke I Den Hollander
Carel B Hoyng
Dirk J Lefeber
Dror Sharon
Eyal Banin
Frans P M Cremers
Hadas Newman
Hagit N Baris
Leah Rizel
P2860
P304
P356
10.1093/HMG/DDV118
P577
2015-04-09T00:00:00Z