Resolution of a mispaired secondary structure intermediate could account for a novel micro-insertion/deletion (387 insA/del 8 bp) in the PYGM gene causing McArdle's disease

Clinical Genetics

Volumn 59, Issue 1, 2001, Pages 48-51

  Martin Ma ^a   Rubio, J C ^a   Garci A ^b   Fernandez Ma F ^a   Campos, Y ^a   Krawczak, M ^c   Cooper, D N ^a   Arenas, J ^a  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^c CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Indel; McArdle's disease; Mutations; Myophophorylase gene; Slipped mispairing

Indexed keywords

GLYCOGEN PHOSPHORYLASE;

ADULT; ARTICLE; BASE MISPAIRING; CASE REPORT; ENZYME ACTIVITY; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GLYCOGEN STORAGE DISEASE TYPE 5; HETEROZYGOTE; HUMAN; MALE; MUSCLE BIOPSY; MUTAGENESIS; PREDICTION; PRIORITY JOURNAL; RNA TRANSLATION; SIBLING;

ADULT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; GENE DELETION; GLYCOGEN STORAGE DISEASE TYPE V; HETEROZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION; PHOSPHORYLASES; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0035168099     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590108.x     Document Type: Article

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