about
Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystoniaIdentifying disease mutations in genomic medicine settings: current challenges and how to accelerate progressUnraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.H3M2: detection of runs of homozygosity from whole-exome sequencing data.Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.Jannovar: a java library for exome annotation.APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.High-throughput sequencing and rare genetic diseases.Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology.The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.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.Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2
P2860
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P2860
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
EX-HOM (EXome HOMozygosity): a proof of principle.
@en
EX-HOM
@nl
type
label
EX-HOM (EXome HOMozygosity): a proof of principle.
@en
EX-HOM
@nl
prefLabel
EX-HOM (EXome HOMozygosity): a proof of principle.
@en
EX-HOM
@nl
P2093
P2860
P50
P356
P1433
P1476
EX-HOM (EXome HOMozygosity): a proof of principle.
@en
P2093
Francesca Torricelli
Giovanni Romeo
Pamela Magini
Pier Luigi Martelli
Tommaso Pippucci
P2860
P356
10.1159/000330164
P577
2011-08-18T00:00:00Z