Dystroglycanopathies: About numerous genes involved in glycosylation of one single glycoprotein

Journal of Neuromuscular Diseases

Volumn 2, Issue 1, 2015, Pages 27-38

  Bouchet Séraphin, Céline ^a   Vuillaumier Barrot, Sandrine ^a,b   Seta, Nathalie ^a,c  

^a BICHAT HOSPITAL   (France)

^b Department of Epidemiology   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

(4 10) MeSH database; CMD; Glycosylation; LGMD; O mannosylation; WWS

Indexed keywords

ALPHA SARCOGLYCAN; DOLICHOL; GLYCOPROTEIN; MANNOSE;

B3GALNT2 GENE; B4GAT1 GENE; CARBOHYDRATE METABOLISM; CLINICAL FEATURE; DOLK GENE; DPM1 GENE; DPM2 GENE; DYSTROGLYCANOPATHY; FKRP GENE; FKTN GENE; GENE; GENE LOCATION; GENE TARGETING; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; GMPPB GENE; GTDC2 GENE; HUMAN; LARGE GENE; MOLECULAR DIAGNOSIS; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NEUROMUSCULAR DISEASE; POMGNT1 GENE; POMT1 GENE; POMT2 GENE; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; REVIEW; SGK196 GENE; TMEM5 GENE;

EID: 84976641784     PISSN: 22143599     EISSN: 22143602     Source Type: Journal    
DOI: 10.3233/JND-140047     Document Type: Review

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