Two homozygous mutations (R193W and 794/795 delAA) in the myophosphorylase gene in a patient with McArdle's disease.

Human mutation

Volumn 15, Issue 3, 2000, Pages 294-

  Martin M A ^a   Rubio, J C ^a   Campos, Y ^a   Vilchez J ^a   Cabello, A ^a   Arenas, J ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; PHOSPHORYLASE; TRYPTOPHAN;

ADOLESCENT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; GENETICS; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; MALE; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADOLESCENT; AMINO ACID SEQUENCE; ARGININE; BASE SEQUENCE; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MALE; MUTATION; PHOSPHORYLASES; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TRYPTOPHAN;

MLCS; MLOWN;

EID: 0034146422     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(200003)15:3<294::aid-humu13>3.0.co;2-h     Document Type: Article

References (0)