A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

Human mutation

Volumn 28, Issue 2, 2007, Pages 203-204

  Rubio, Juan C ^a   Garcia Consuegra, Ines ^a   Nogales Gadea, Gisela ^a   Blazquez, Alberto ^a   Cabello, Ana ^a   Lucia, Alejandro ^a   Andreu, Antoni L ^a   Arenas, Joaquin ^a   Martin, Miguel A ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLYCOGEN PHOSPHORYLASE;

ADOLESCENT; ADULT; ARTICLE; BLOOD; CHILD; EXON; FEMALE; FRAMESHIFT MUTATION; GENETIC SCREENING; GENETICS; GLYCOGEN STORAGE DISEASE TYPE 5; HUMAN; MALE; METHODOLOGY; MIDDLE AGED; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; STOP CODON;

ADOLESCENT; ADULT; CHILD; CODON, NONSENSE; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRAMESHIFT MUTATION; GENETIC SCREENING; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HUMANS; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 33847709954     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9474     Document Type: Article

References (0)