Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer

Molecular Genetics and Metabolism

Volumn 93, Issue 3, 2008, Pages 323-330

  Boichard, A ^a   Venet, L ^a   Naas, T ^b   Boutron, A ^a   Chevret, L ^a   de Baulny, H Ogier ^c   De Lonlay, P ^d   Legrand, A ^a   Nordman, P ^b   Brivet, M ^a  

^a BICÊTRE HOSPITAL   (France)

^b UNIVERSITÉ PARIS SACLAY   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Aberrant splicing; PDHA1 gene; Pyruvate dehydrogenase; Pyruvate dehydrogenase deficiency; Somatic mosaicism; SRp55 binding; Synonymous mutations

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; PYRUVATE DEHYDROGENASE A1; PYRUVATE DEHYDROGENASE COMPLEX; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CASE REPORT; CELL STRAIN COS7; COMPUTER MODEL; CONSENSUS SEQUENCE; CONTROLLED STUDY; ENHANCER REGION; EXON; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GENE DISRUPTION; GENE SILENCING; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; HAIR ROOT; HELA CELL; HUMAN; HUMAN CELL; MALE; MOSAICISM; MUTATIONAL ANALYSIS; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SITE DIRECTED MUTAGENESIS; SOMATIC MUTATION; WILD TYPE;

ANIMALS; BINDING SITES; CELL LINE; CHILD; CHILD, PRESCHOOL; ENHANCER ELEMENTS (GENETICS); EXONS; FEMALE; HUMANS; MALE; MUTATION; PYRUVATE DEHYDROGENASE (LIPOAMIDE); RNA SPLICING;

EID: 38849189264     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.09.020     Document Type: Article

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