Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
about
Axonal neuropathy with neuromyotonia: there is a HINT.Charcot-Marie-Tooth diseases: an update and some new proposals for the classification.Towards a functional pathology of hereditary neuropathies.Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease.Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.Charcot-Marie-Tooth Disease Type 4H Resulting from Compound Heterozygous Mutations in FGD4 from Nonconsanguineous Korean Families.Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
P2860
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P2860
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին 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
Unraveling the genetic landsca ...... homozygosity mapping approach.
@ast
Unraveling the genetic landsca ...... homozygosity mapping approach.
@en
type
label
Unraveling the genetic landsca ...... homozygosity mapping approach.
@ast
Unraveling the genetic landsca ...... homozygosity mapping approach.
@en
prefLabel
Unraveling the genetic landsca ...... homozygosity mapping approach.
@ast
Unraveling the genetic landsca ...... homozygosity mapping approach.
@en
P2093
P2860
P50
P1433
P1476
Unraveling the genetic landsca ...... homozygosity mapping approach.
@en
P2093
Amira Masri
Bernard Dan
Burcak Ozes
Derek Atkinson
Dirk Goossens
Eduardo Lopez-Laso
Esra Battaloğlu
Haluk Topaloğlu
Magdalena Zimoń
Mohammad Shboul
P2860
P2888
P356
10.1007/S10048-014-0422-0
P50
P577
2014-09-18T00:00:00Z