Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered - Wikidata - awgldk - TriplyDB

Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered

Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered

http://www.wikidata.org/entity/Q34479143

about

Achieving high-sensitivity for clinical applications using augmented exome sequencing Novel Approaches for Fungal Transcriptomics from Host Samples Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis.Autophagic vacuolar pathology in desminopathies.Hunting human disease genes: lessons from the past, challenges for the future.LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.

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Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered

http://www.wikidata.org/entity/Q34479143

description

2012 nî lūn-bûn

@nan

2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2012 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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Exome analysis of two limb-gir ...... ied and challenges encountered

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Exome analysis of two limb-gir ...... ied and challenges encountered

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Exome analysis of two limb-gir ...... ied and challenges encountered

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type

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Exome analysis of two limb-gir ...... ied and challenges encountered

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Exome analysis of two limb-gir ...... ied and challenges encountered

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Exome analysis of two limb-gir ...... ied and challenges encountered

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prefLabel

Exome analysis of two limb-gir ...... ied and challenges encountered

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Exome analysis of two limb-gir ...... ied and challenges encountered

@en

Exome analysis of two limb-gir ...... ied and challenges encountered

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Exome analysis of two limb-gir ...... ied and challenges encountered

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Colette Blach

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Jeffrey Stajich

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Michael A Hauser

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P2860

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

Fast and accurate short read alignment with Burrows-Wheeler transform

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

The Sequence Alignment/Map format and SAMtools

Structural and functional aspects of filamins

Filamins as integrators of cell mechanics and signalling

Primer3Plus, an enhanced web interface to Primer3

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

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.

Proper perinuclear localization of the TRIM-like protein myospryn requires its binding partner desmin.

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Kristin K McDonald

Allison Ashley-Koch

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