Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E, α subunit gene

Human Molecular Genetics

Volumn 3, Issue 7, 1994, Pages 1193-1194

  Naito, Etsuo ^a   Ito, Michinori ^a   Yokota, Ichiro ^a   Matsuda, Junko ^a   Yara, Asao ^a,b   Kuroda, Yasuhiro ^a  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b UNIVERSITY OF THE RYUKYUS   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PYRUVATE DEHYDROGENASE;

ARTICLE; CASE REPORT; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE INSERTION; HUMAN; HUMAN CELL; LACTIC ACIDOSIS; LYMPHOBLASTOID CELL; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY;

AMINO ACID SEQUENCE; BASE SEQUENCE; CASE REPORT; CONSENSUS SEQUENCE; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENES, STRUCTURAL; HUMAN; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; SUPPORT, NON-U.S. GOV'T;

EID: 0028352319     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/3.7.1193     Document Type: Note

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