Demonstration of a new pathogenic mutation in human complex I deficiency: A 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

American Journal of Human Genetics

Volumn 62, Issue 2, 1998, Pages 262-268

  Van Den Heuvel, Lambert ^a   Ruitenbeek, Wim ^a   Smeets, Roel ^a   Gelman Kohan, Zully ^b   Elpeleg, Orly ^c   Loeffen, Jan ^a   Trijbels, Frans ^a   Mariman, Edwin ^a   De Bruijn, Diederik ^a   Smeitink, Jan ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b KAPLAN MEDICAL CENTER   (Israel)

^c SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MITOCHONDRIAL ENZYME; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ARTICLE; CASE REPORT; CHILD; CHROMOSOMAL LOCALIZATION; ENZYME DEFICIENCY; GENE MAPPING; GENE MUTATION; HUMAN; INBORN ERROR OF METABOLISM; MALE; OPEN READING FRAME; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 17344365132     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301716     Document Type: Article

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