Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry

Human Mutation

Volumn 11, Issue 3, 1998, Pages 209-215

  Hermans, Monique M P ^a   Kroos, Marian A ^a   Smeitink, Jan A M ^b   Van Der Ploeg, Ans T ^a   Kleijer, Wim J ^a   Reuser, Arnold J J ^a  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Acid maltase; Glycogenosis; Lysosomal; Mutation analysis; Pompe

Indexed keywords

ALPHA GLUCOSIDASE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; EXON; FRAMESHIFT MUTATION; GENE INSERTION; GENETIC SUSCEPTIBILITY; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; INFANT; MISSENSE MUTATION; PATHOGENESIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; TURKEY (REPUBLIC);

ALPHA-GLUCOSIDASES; ANIMALS; CELLS, CULTURED; CONSANGUINITY; COS CELLS; DNA MUTATIONAL ANALYSIS; FIBROBLASTS; GLUCAN 1,4-ALPHA-GLUCOSIDASE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; INFANT, NEWBORN; MUTAGENESIS, SITE-DIRECTED; MUTATION; NETHERLANDS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SKIN; TURKEY;

EID: 0031937991     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:3<209::AID-HUMU5>3.0.CO;2-C     Document Type: Article

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