A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
about
Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 familyThe Concise Guide to PHARMACOLOGY 2013/14: transporters.Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model.Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.Huppke-Brendel syndrome in a seven months old boy with a novel 2-bp deletion in SLC33A1.REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes
P2860
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P2860
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
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2010 nî lūn-bûn
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2010 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2010 թվականի մայիսին հրատարակված գիտական հոդված
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2010年の論文
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2010年論文
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2010年論文
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2010年論文
@zh-hk
2010年論文
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2010年論文
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2010年论文
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name
A total of 220 patients with a ...... s in the SLC33A1 gene (SPG42).
@ast
A total of 220 patients with a ...... s in the SLC33A1 gene (SPG42).
@en
A total of 220 patients with a ...... mutations in the SLC33A1 gene
@nl
type
label
A total of 220 patients with a ...... s in the SLC33A1 gene (SPG42).
@ast
A total of 220 patients with a ...... s in the SLC33A1 gene (SPG42).
@en
A total of 220 patients with a ...... mutations in the SLC33A1 gene
@nl
prefLabel
A total of 220 patients with a ...... s in the SLC33A1 gene (SPG42).
@ast
A total of 220 patients with a ...... s in the SLC33A1 gene (SPG42).
@en
A total of 220 patients with a ...... mutations in the SLC33A1 gene
@nl
P2093
P2860
P50
P356
P1476
A total of 220 patients with a ...... s in the SLC33A1 gene (SPG42).
@en
P2093
Anne Kjersti Erichsen
Chantal M E Tallaksen
Cécile Zaros
Kathrin Karle
Nina A Schlipf
Peter Bauer
Stephan Klebe
Susanne Otto
Sven Klimpe
Sylvie Forlani
P2860
P2888
P304
P356
10.1038/EJHG.2010.68
P577
2010-05-12T00:00:00Z