A chronic GM2 gangliosidosis variant with a HEXA splicing defect: Quantitation of HEXA mRNAs in normal and mutant fibroblasts

European Journal of Human Genetics

Volumn 5, Issue 3, 1997, Pages 129-136

  Fernandes, M J G ^a,b   Hechtman, Peter ^a,b   Boulay, Bernard ^a   Kaplan, Feige ^a,b  

^a RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b MCGILL UNIVERSITY   (Canada)

Author keywords

Chronic variant GM2 gangliosidosis; mRNA quantitation; Splicing defects

Indexed keywords

GANGLIOSIDE GM2; MESSENGER RNA; BETA N ACETYLHEXOSAMINIDASE; COMPLEMENTARY RNA; PRIMER DNA; RNA;

ARTICLE; EXON; FIBROBLAST; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; JEW; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; TAY SACHS DISEASE; ALLELE; CELL LINE; CYTOLOGY; DNA SEQUENCE; GENETICS; ISOLATION AND PURIFICATION; METABOLISM; MUTATION; PATHOLOGY; PLASMID; SINGLE STRAND CONFORMATION POLYMORPHISM;

ALLELES; BETA-N-ACETYLHEXOSAMINIDASE; CELL LINE; DNA PRIMERS; EXONS; FIBROBLASTS; G(M2) GANGLIOSIDE; HUMANS; MUTATION; PLASMIDS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA; RNA SPLICING; RNA, COMPLEMENTARY; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; TAY-SACHS DISEASE;

EID: 0030612577     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000484748     Document Type: Article

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