Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

Journal of Medical Genetics

Volumn 46, Issue 3, 2009, Pages 198-202

  Garcia Consuegra I ^a,b   Rubio, J C ^a,b   Nogales Gadea, G ^b,c   Bautista, J ^d   Jimenez S ^a,b   Cabello, A ^a,b   Lucia A ^e   Andreu, A L ^b,c   Arenas, J ^a,b   Martin, M A ^a,b  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^d HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^e UNIVERSIDAD EUROPEA DE MADRID   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; GLYCOGEN PHOSPHORYLASE; MESSENGER RNA; NUCLEOTIDE;

ADULT; ALLELE; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DNA DETERMINATION; ELECTROPHORESIS; GENE EXPRESSION; GENE SEQUENCE; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GLYCOGEN STORAGE DISEASE TYPE 5; HETEROZYGOTE; HUMAN; INTRON; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA ANALYSIS; SKELETAL MUSCLE;

ADULT; COMPUTER SIMULATION; GENE EXPRESSION; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA;

EID: 62149137695     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.059469     Document Type: Article

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