Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.
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Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.Exploring Seipin: From Biochemistry to Bioinformatics Predictions
P2860
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.
description
2014 nî lūn-bûn
@nan
2014 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հունիսին 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
Exome sequencing circumvents m ...... n in congenital lipodystrophy.
@ast
Exome sequencing circumvents m ...... n in congenital lipodystrophy.
@en
type
label
Exome sequencing circumvents m ...... n in congenital lipodystrophy.
@ast
Exome sequencing circumvents m ...... n in congenital lipodystrophy.
@en
prefLabel
Exome sequencing circumvents m ...... n in congenital lipodystrophy.
@ast
Exome sequencing circumvents m ...... n in congenital lipodystrophy.
@en
P2093
P2860
P356
P1433
P1476
Exome sequencing circumvents m ...... on in congenital lipodystrophy
@en
P2093
Katrin Mäbert
Muhammad Tariq
Pakeeza Arzoo Shaiq
Shahid Mahmood Baig
Tahir Naeem Khan
P2860
P2888
P356
10.1186/1471-2350-15-71
P577
2014-06-24T00:00:00Z
P5875
P6179
1051556898