Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
about
Peroxisomes in brain development and functionNovel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.Effects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activityFORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.The promise of whole-exome sequencing in medical genetics.The important role of biochemical and functional studies in the diagnostics of peroxisomal disordersHeterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family.Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.Peroxisomal Disorders: A Review on Cerebellar Pathologies.Clinical and Laboratory Diagnosis of Peroxisomal Disorders.Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.Exome sequencing as a diagnostic tool for pediatric-onset ataxia.Expanding the genotypic spectrum of Perrault syndrome.Peroxisome biogenesis disorders.
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P2860
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Specific combination of compou ...... functional protein deficiency.
@en
Specific combination of compou ...... xysteroid dehydrogenase type 4
@nl
type
label
Specific combination of compou ...... functional protein deficiency.
@en
Specific combination of compou ...... xysteroid dehydrogenase type 4
@nl
prefLabel
Specific combination of compou ...... functional protein deficiency.
@en
Specific combination of compou ...... xysteroid dehydrogenase type 4
@nl
P2093
P2860
P50
P356
P1476
Specific combination of compou ...... functional protein deficiency.
@en
P2093
Alex Mackenzie
Chandree L Beaulieu
Chloe C Gottlieb
Dennis E Bulman
FORGE Canada Consortium
Jacek Majewski
Michael T Geraghty
Petra A W Mooyer
Sacha Ferdinandusse
Sarah E Lawrence
P2860
P2888
P356
10.1186/1750-1172-7-90
P577
2012-11-22T00:00:00Z
P5875
P6179
1051966323