Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families
about
A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer.Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.Prenatal diagnosis for a Chinese family with a de novo DMD gene mutation: A case report.Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa.
P2860
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Mutations in Splicing Factor G ...... Pigmentosa in Belgian Families
@ast
Mutations in Splicing Factor G ...... Pigmentosa in Belgian Families
@en
type
label
Mutations in Splicing Factor G ...... Pigmentosa in Belgian Families
@ast
Mutations in Splicing Factor G ...... Pigmentosa in Belgian Families
@en
prefLabel
Mutations in Splicing Factor G ...... Pigmentosa in Belgian Families
@ast
Mutations in Splicing Factor G ...... Pigmentosa in Belgian Families
@en
P2093
P2860
P50
P1433
P1476
Mutations in Splicing Factor G ...... Pigmentosa in Belgian Families
@en
P2093
Bart P Leroy
Charlotte Claes
Dimitri Roels
Erik Fransen
Fanny Depasse
Helena Flipts
Ingele Casteels
Julie De Zaeytijd
Sarah De Jaegere
Sophie Walraedt
P2860
P304
P356
10.1371/JOURNAL.PONE.0170038
P407
P577
2017-01-11T00:00:00Z