Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype

Molecular Genetics and Metabolism

Volumn 87, Issue 2, 2006, Pages 162-168

  Okajima, Kazuki ^a,b   Warman, Matthew L ^b   Byrne, Leah C ^c   Kerr, Douglas S ^a,b  

^a CASE WESTERN RESERVE UNIVERSITY   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF OREGON   (United States)

Author keywords

Immunocytochemistry; Pyruvate dehydrogenase deficiency; Splicing

Indexed keywords

3 HYDROXYBUTYRATE DEHYDROGENASE; ALANINE; CARNITINE; COMPLEMENTARY DNA; GENOMIC DNA; LACTIC ACID; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVIC ACID; THIAMINE;

ANAMNESIS; ARTICLE; CASE REPORT; CHIMERA; CHROMOSOME MUTATION; CLINICAL FEATURE; DNA DETERMINATION; DNA SEQUENCE; DNA SPLICING; ENZYME ACTIVITY; EUKARYOTE; EXON; FIBROBLAST CULTURE; GENE EXPRESSION; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; KARYOTYPING; KETOGENIC DIET; LABORATORY TEST; LYMPHOCYTE; MALE; MOSAICISM; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; SCHOOL CHILD; SKELETAL MUSCLE; SKIN FIBROBLAST; X CHROMOSOME;

BASE SEQUENCE; BLOTTING, WESTERN; CHILD; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXONS; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MOSAICISM; PHENOTYPE; PYRUVATE DEHYDROGENASE (LIPOAMIDE); RNA, MESSENGER; SEQUENCE DELETION;

EUKARYOTA;

EID: 32044432848     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.09.023     Document Type: Article

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