Glycogenosis type II: A juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans

Human Mutation

Volumn 10, Issue 2, 1997, Pages 128-134

  Adams, Elizabeth M ^a   Becker, Jeffrey A ^b   Griffith, Linda ^a   Segal, Ava ^a   Plotz, Paul H ^a   Raben, Nina ^a  

^a NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

Acid maltase deficiency; Exon skip; Glycogen storage disease; Intron retention; Splicing mutation

Indexed keywords

DNA; GLUCAN 1,4 ALPHA GLUCOSIDASE; MESSENGER RNA;

ARTICLE; CASE REPORT; CHILD; DNA POLYMORPHISM; GENE INSERTION; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; INTRON; MALE; NEGRO; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING;

AFRICAN CONTINENTAL ANCESTRY GROUP; ALPHA-GLUCOSIDASES; BASE SEQUENCE; CHILD; EXONS; FEMALE; GLUCAN 1,4-ALPHA-GLUCOSIDASE; GLYCOGEN STORAGE DISEASE TYPE II; HETEROZYGOTE; HUMANS; INFANT; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, GENETIC; RNA SPLICING;

EID: 0030803880     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:2<128::AID-HUMU5>3.0.CO;2-G     Document Type: Article

References (7)

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