Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex
about
Identification of a PRPF4 loss-of-function variant that abrogates U4/U6.U5 tri-snRNP integration and is associated with retinitis pigmentosaEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseTo grow or not to grow: hair morphogenesis and human genetic hair disordersGenetics of human isolated hereditary hair loss disorders.A review of craniofacial disorders caused by spliceosomal defects.mRNA metabolism and neuronal disease.Variant snRNPs: New players within the spliceosome system.Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
P2860
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P2860
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex
description
2013 nî lūn-bûn
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2013 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Mutations in SNRPE, which enco ...... dominant hypotrichosis simplex
@ast
Mutations in SNRPE, which enco ...... dominant hypotrichosis simplex
@en
Mutations in SNRPE, which enco ...... dominant hypotrichosis simplex
@en-gb
Mutations in SNRPE, which enco ...... dominant hypotrichosis simplex
@nl
type
label
Mutations in SNRPE, which enco ...... dominant hypotrichosis simplex
@ast
Mutations in SNRPE, which enco ...... dominant hypotrichosis simplex
@en
Mutations in SNRPE, which enco ...... dominant hypotrichosis simplex
@en-gb
Mutations in SNRPE, which enco ...... dominant hypotrichosis simplex
@nl
prefLabel
Mutations in SNRPE, which enco ...... dominant hypotrichosis simplex
@ast
Mutations in SNRPE, which enco ...... dominant hypotrichosis simplex
@en
Mutations in SNRPE, which enco ...... dominant hypotrichosis simplex
@en-gb
Mutations in SNRPE, which enco ...... dominant hypotrichosis simplex
@nl
P2093
P2860
P50
P921
P1476
Mutations in SNRPE, which enco ...... dominant hypotrichosis simplex
@en
P2093
Alan Fryer
Carlos Ferrándiz
Clemens Grimm
Elham Paknia
Elizabeth Sweeney
Melanie Refke
Miquel Just
Niklas Schäfer
Regina C Betz
Roland Kruse
P2860
P356
10.1016/J.AJHG.2012.10.022
P407
P577
2013-01-10T00:00:00Z