A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease type II (GSDII)

Human Genetics

Volumn 104, Issue 1, 1999, Pages 94-98

  Huie, M L ^a   Shanske, A L ^b   Kasper, J S ^a   Marion, R W ^b   Hirschhorn, R ^a  

^a NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^b MONTEFIORE MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; EXON; FEMALE; GENE DELETION; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; INFANT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ALU ELEMENTS; BASE SEQUENCE; CLONING, MOLECULAR; EXONS; FEMALE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 0033016885     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050916     Document Type: Article

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