Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations

Journal of Human Genetics

Volumn 55, Issue 1, 2010, Pages 18-22

  Numata, Sanae ^a   Koda, Yoshiro ^a   Ihara, Kenji ^b   Sawada, Tomo ^c   Okano, Yoshiyuki ^c   Matsuura, Toshinobu ^d   Endo, Fumio ^d   Yoo, Han Wook ^e   Arranz, Jose A ^f   Rubio, Vicente ^g   Wermuth, Bendicht ^h   Ah Mew, Nicholas ⁱ   Tuchman, Mendel ⁱ   Pinner, Jason R ^j   Kirk, Edwin P ^j   Yoshino, Makoto ^a  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

^c OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d KUMAMOTO UNIVERSITY   (Japan)

^e Asan Medical Center   (South Korea)

^f HOSPITAL MATERNO INFANTIL VALL D HEBRON   (Spain)

^g INSTITUTO DE SALUD CARLOS III   (Spain)

^h UNIVERSITY OF BERN   (Switzerland)

ⁱ CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^j SYDNEY CHILDREN'S HOSPITAL   (Australia)

more..

Author keywords

Haplotype; Late onset; Male; Ornithine transcarbamylase deficiency; Recurrent mutation; Single nucleotide polymorphism

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; AUSTRALIA; CAUCASIAN; CLINICAL ARTICLE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; FEMALE; GENE FREQUENCY; GENE LOCUS; GENETIC ASSOCIATION; HAPLOTYPE; HETEROZYGOSITY; HUMAN; JAPANESE; MALE; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN;

AGE OF ONSET; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; EUROPEAN CONTINENTAL ANCESTRY GROUP; EVOLUTION, MOLECULAR; GENE FREQUENCY; HAPLOTYPES; HUMANS; JAPAN; MALE; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 76149110801     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2009.113     Document Type: Article

References (29)

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