Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
about
Mutations in the Human AAA+ Chaperone p97 and Related DiseasesLevels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometryNGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands.Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.
P2860
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P2860
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Diagnosis of late-onset Pompe ...... by next-generation sequencing
@ast
Diagnosis of late-onset Pompe ...... by next-generation sequencing
@en
type
label
Diagnosis of late-onset Pompe ...... by next-generation sequencing
@ast
Diagnosis of late-onset Pompe ...... by next-generation sequencing
@en
prefLabel
Diagnosis of late-onset Pompe ...... by next-generation sequencing
@ast
Diagnosis of late-onset Pompe ...... by next-generation sequencing
@en
P2093
P2860
P1476
Diagnosis of late-onset Pompe ...... by next-generation sequencing
@en
P2093
Amelie Nadeau
Bruno Maranda
Christiane Auray-Blais
Elaine Gravel
Joan Keutzer
Laura Dempsey-Nunez
Marie-France Rioux
Michel Boutin
Paula J Waters
Pierre-Etienne Jacques
P2860
P2888
P356
10.1186/S13023-016-0390-6
P50
P577
2016-01-25T00:00:00Z
P6179
1015973010