Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease

Annals of Human Genetics

Volumn 68, Issue 1, 2004, Pages 17-22

  Martin M A ^a   Rubio, J C ^a   Wevers, R A ^b   Van Engelen, B G M ^b   Steenbergen, G C H ^b   Van Diggelen, O P ^c   De Visser, M ^d   De Die Smulders, C ^e   Blazquez A ^a   Andreu, A L ^f   Arenas, J ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ROTTERDAM UNIVERSITY OF APPLIED SCIENCES   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^f HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN PHOSPHORYLASE;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ANALYSIS; ENZYME DEFICIENCY; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC HETEROGENEITY; GLYCOGEN STORAGE DISEASE TYPE 5; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NETHERLANDS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

BASE SEQUENCE; DNA PRIMERS; FEMALE; GENETIC HETEROGENEITY; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MALE; MUTATION; NETHERLANDS;

EID: 10744222753     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1529-8817.2003.00067.x     Document Type: Article

References (27)

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