Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy

American Journal of Human Genetics

Volumn 87, Issue 6, 2010, Pages 834-841

  Gundesli, Hulya ^a   Talim, Beril ^a   Korkusuz, Petek ^a   Balci Hayta, Burcu ^a   Cirak, Sebahattin ^b   Akarsu, Nurten A ^a   Topaloglu, Haluk ^a   Dincer, Pervin ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PLECTIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 8Q; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXON; EXON 1F; GENE MAPPING; GENE MUTATION; GENOTYPE; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; PHENOTYPE; PRIORITY JOURNAL; TRANSMISSION ELECTRON MICROSCOPY;

CONSANGUINITY; EXONS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; PEDIGREE; PLECTIN; PROTEIN ISOFORMS;

EID: 78649796969     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.10.017     Document Type: Article

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