Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

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Integrative variants, haplotypes and diplotypes of the CAPN3 and FRMD5 genes and several environmental exposures associate with serum lipid variables The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients

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Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

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http://www.wikidata.org/entity/Q36418689

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

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2016年學術文章

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name

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

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Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

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Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

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Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

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Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

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Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

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Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

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Duhee Bang

http://www.w3.org/2001/XMLSchema#string

Hoon Jang

http://www.w3.org/2001/XMLSchema#string

Hyung Jun Park

http://www.w3.org/2001/XMLSchema#string

Ji Hyun Lee

http://www.w3.org/2001/XMLSchema#string

Jung Hwan Lee

http://www.w3.org/2001/XMLSchema#string

Kee Duk Park

http://www.w3.org/2001/XMLSchema#string

Min Goo Lee

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P2860

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

The Sequence Alignment/Map format and SAMtools

Fast and accurate long-read alignment with Burrows-Wheeler transform

A framework for variation discovery and genotyping using next-generation DNA sequencing data

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).

Calpains and disease.

Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

Calpainopathy-a survey of mutations and polymorphisms.

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173-179

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scholarly article

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10.3349/YMJ.2016.57.1.173

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2016-01-01T00:00:00Z

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26632398

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4696950

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Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

about

P2860

P2860

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932