Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: Role of alternative splicing and nonsense-mediated mRNA decay

Molecular Genetics and Metabolism

Volumn 100, Issue 2, 2010, Pages 176-183

  Levit, A ^a   Nutman, D ^a   Osher, E ^b   Kamhi, E ^c   Navon, R ^a  

^a TEL AVIV UNIVERSITY   (Israel)

^b TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^c WEIZMANN INSTITUTE OF SCIENCE   (Israel)

Author keywords

hexosaminidase (Hex A); Exon skipping; Exonic mutation; GM2 gangliosidosis; HEXA gene; Nonsense mediated mRNA decay (NMD); Premature termination codons (PTCs); Tay Sachs disease (TSD)

Indexed keywords

ARGININE; ASPARAGINE; ASPARTIC ACID; BETA N ACETYLHEXOSAMINIDASE A; GLYCINE; MESSENGER RNA;

ALTERNATIVE RNA SPLICING; ARTICLE; EXON; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GENE CONSTRUCT; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; NONSENSE MEDIATED MRNA DECAY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN SYNTHESIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON; TAY SACHS DISEASE;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; HEXOSAMINIDASE A; HUMANS; POINT MUTATION; RNA STABILITY; TAY-SACHS DISEASE;

EID: 77951974278     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.03.010     Document Type: Article

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