Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA

American Journal of Medical Genetics

Volumn 127 A, Issue 2, 2004, Pages 158-166

  Wicklow, Brandy A ^a   Ivanovich, Jennifer L ^b   Plews, Margot M ^a   Salo, Timothy J ^a   Noetzel, Michael J ^b   Lueder, Gregg T ^b   Cartegni, Luca ^c   Kaback, Miehael M ^d   Sandhoff, Konrad ^e   Steiner, Robert D ^f   Triggs Raine, Barbara L ^a  

^a UNIVERSITY OF MANITOBA   (Canada)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Howard Hughes Medical Institute Cold Spring Harbor Laboratory Cold Spring Harbor   (United States)

^d UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^e UNIVERSITY OF BONN   (Germany)

^f OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Aberrant splicing; GM2 gangliosidosis; HEXA; Mutation; Splice donor; Tay Sachs disease; hexosaminidase

Indexed keywords

MESSENGER RNA; BETA N ACETYLHEXOSAMINIDASE; PRIMER DNA;

AGE; ALLELE; ANIMAL CELL; ARTICLE; CASE REPORT; CELL STRAIN COS7; CLINICAL FEATURE; COLOR; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; FIBROBLAST; GENE; GENE ACTIVITY; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GM2 GANGLIOSIDOSIS; HEXA GENE; HUMAN; HUMAN CELL; MEDICAL EXAMINATION; MOLECULAR GENETICS; MOTHER; NEUROLOGIC DISEASE; NONHUMAN; NORTHERN BLOTTING; ONSET AGE; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA SEQUENCE; RNA SPLICING; RNA TRANSCRIPTION; SEQUENCE ANALYSIS; SYMPTOM; ALTERNATIVE RNA SPLICING; ANIMAL; CELL STRAIN COS1; CERCOPITHECUS; DNA SEQUENCE; FATALITY; GENETICS; INFANT; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; SINGLE STRAND CONFORMATION POLYMORPHISM; WESTERN BLOTTING;

ALTERNATIVE SPLICING; ANIMALS; BASE SEQUENCE; BETA-N-ACETYLHEXOSAMINIDASE; BLOTTING, NORTHERN; BLOTTING, WESTERN; CERCOPITHECUS AETHIOPS; COS CELLS; DNA PRIMERS; FATAL OUTCOME; FIBROBLASTS; GANGLIOSIDOSES, GM2; HUMANS; INFANT; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA;

EID: 2442532778     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20633     Document Type: Article

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