Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: Identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II

American Journal of Human Genetics

Volumn 70, Issue 4, 2002, Pages 1054-1057

  Huie, Maryann L ^a   Anyane Yeboa, Kwame ^b   Guzman, Edwin ^b   Hirschhorn, Rochelle ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b The New York Presbyterian Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; DNA FLANKING REGION; EXON; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COMPLEMENTATION; GLYCOGEN STORAGE DISEASE TYPE 2; HOMOZYGOSITY; HUMAN; INTRON; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

INSERTION SEQUENCES;

EID: 0036206605     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/339691     Document Type: Article

References (12)

1. Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II
2. Human lysosomal alpha-glucosidase: Functional characterization of the glycosylation sites
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4. Glycogen storage disease type II: Acid alpha-glucosidase (acid maltase) deficiency
5. A de novo 13 nt deletion, a missense mutation and a deletion of exon 18 in two patients with infantile onset GSD II
6. A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII)
7. Glycogen storage disease type II: Identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertion/deletions in the acid alpha glucosidase locus of patients of differing phenotype
8. Molecular genetic study of Pompe disease in Chinese patients in Taiwan
9. Glycogen storage disease type II: Frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients
10. Juvenile and adult onset acid maltase deficiency in France: Genotype-phenotype correlation
11. Isolation and characterization of the structural gene for human acid alpha glucosidase
12. Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA