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.
about
Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypesSphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).
P2860
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.
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
Novel mutations in genes causi ...... sed on whole-exome sequencing.
@en
type
label
Novel mutations in genes causi ...... sed on whole-exome sequencing.
@en
prefLabel
Novel mutations in genes causi ...... sed on whole-exome sequencing.
@en
P2093
P2860
P50
P356
P1433
P1476
Novel mutations in genes causi ...... ased on whole-exome sequencing
@en
P2093
Ahmet Yaramis
Albena Jordanova
Esra Battaloglu
Gian Maria Fabrizi
Haluk Topaloglu
Ivailo Tournev
Teodora Chamova
Vanyo Mitev
Yesim Parma
Yesim Parman
P2860
P2888
P304
P356
10.1038/GIM.2015.139
P407
P577
2015-10-22T00:00:00Z
P6179
1039377805