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Volumn 50, Issue 5, 2001, Pages 574-581
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Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): A genotype-phenotype correlation study
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Author keywords
[No Author keywords available]
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Indexed keywords
GLYCOGEN PHOSPHORYLASE;
ADOLESCENT;
ADULT;
AGED;
ALLELE;
ARTICLE;
BASE PAIRING;
CHILD;
FEMALE;
GENE DELETION;
GENETIC ANALYSIS;
GENETIC HETEROGENEITY;
GENOTYPE;
GLYCOGEN STORAGE DISEASE TYPE 5;
HUMAN;
MAJOR CLINICAL STUDY;
MALE;
MOLECULAR GENETICS;
MULTIGENE FAMILY;
NONSENSE MUTATION;
PHENOTYPE;
POLYMERASE CHAIN REACTION;
PRIORITY JOURNAL;
RESTRICTION FRAGMENT LENGTH POLYMORPHISM;
ADOLESCENT;
ADULT;
AGED;
AGED, 80 AND OVER;
BINDING SITES;
CHILD;
FEMALE;
GENETIC SCREENING;
GENOTYPE;
GLYCOGEN PHOSPHORYLASE, MUSCLE FORM;
GLYCOGEN STORAGE DISEASE TYPE V;
HETEROZYGOTE;
HOMOZYGOTE;
HUMANS;
MALE;
MIDDLE AGED;
MODELS, MOLECULAR;
MUTATION;
PHENOTYPE;
POLYMERASE CHAIN REACTION;
POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;
SPAIN;
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EID: 0034753605
PISSN: 03645134
EISSN: None
Source Type: Journal
DOI: 10.1002/ana.1225 Document Type: Article |
Times cited : (85)
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References (33)
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