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
Maryann L. Huie, Kwame Anyane-Yeboa, Edwin Guzman, Rochelle HirschhornVolume:
70
Year:
2002
Language:
english
DOI:
10.1086/339691
File:
PDF, 238 KB
english, 2002