Molecular diagnosis of McArdle disease: Revised genomic structure of the myophosphorylase gene and identification of a novel mutation

Human Mutation

Volumn 12, Issue 1, 1998, Pages 27-32

  Kubisch, Christian ^a   Wicklein, Eva M ^b   Jentsch, Thomas J ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY OF HAMBURG   (Germany)

Author keywords

McArdle disease; Muscle glycogen phosphorylase; Mutation screening; PYGM

Indexed keywords

GLYCOGEN PHOSPHORYLASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASE PAIRING; CASE REPORT; DNA SEQUENCE; FEMALE; GENETIC LINKAGE; GLYCOGEN METABOLISM; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL;

EID: 0031744739     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1998)12:1<27::aid-humu4>3.0.co;2-%23     Document Type: Article

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