Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.
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Comparison of Direct Sequencing, Real-Time PCR-High Resolution Melt (PCR-HRM) and PCR-Restriction Fragment Length Polymorphism (PCR-RFLP) Analysis for Genotyping of Common Thiopurine Intolerant Variant Alleles NUDT15 c.415C>T and TPMT c.719A>G (TPMTNovel Tetra-Primer ARMS-PCR Assays for Thiopurine Intolerance Susceptibility Mutations NUDT15 c.415C>T and TPMT c.719A>G (TPMT*3C) in East Asians.Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C.GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report
P2860
Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Rapid Identification of Pathog ...... ease by Gene-Panel Sequencing.
@en
Rapid Identification of Pathog ...... ease by Gene-Panel Sequencing.
@nl
type
label
Rapid Identification of Pathog ...... ease by Gene-Panel Sequencing.
@en
Rapid Identification of Pathog ...... ease by Gene-Panel Sequencing.
@nl
prefLabel
Rapid Identification of Pathog ...... ease by Gene-Panel Sequencing.
@en
Rapid Identification of Pathog ...... ease by Gene-Panel Sequencing.
@nl
P2093
P2860
P356
P1476
Rapid Identification of Pathog ...... ease by Gene-Panel Sequencing.
@en
P2093
Chi-Chun Ho
Edmond Chi-Nam Lee
Shuk-Mui Tai
Timothy Kam-Tim Liu
Timothy Shin-Heng Mak
Victor Wai-Lun Tang
Wing-Tat Poon
P2860
P356
10.3390/IJMS18040770
P407
P577
2017-04-05T00:00:00Z