Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations

Journal of Human Genetics

Volumn 57, Issue 2, 2012, Pages 145-152

  Chiu, Yen Hui ^a,b   Chang, Ying Chen ^a   Chang, Yu Hsin ^a,o   Niu, Dau Ming ^c   Yang, Yan Ling ^d   Ye, Jun ^e   Jiang, Jianhui ^f   Okano, Yoshiyuki ^g   Lee, Dong Hwan ^h   Pangkanon, Suthipong ⁱ   Kuptanon, Chulaluck ^j   Hock, Ngu Lock ^k   Chiong, Mary Anne ^l   Cavan, Barbra V ^m   Hsiao, Kwang Jen ^a,b,n   Liu, Tze Tze ^a,b  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b TAIPEI CITY HOSPITAL   (Taiwan)

^c TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^d PEKING UNIVERSITY   (China)

^e SHANGHAI JIAO TONG UNIVERSITY   (China)

^f GUANGZHOU MATERNAL AND NEONATAL HOSPITAL   (China)

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

^h Soonchunhyang University College of Medicine   (South Korea)

ⁱ RANGSIT UNIVERSITY   (Thailand)

^j MAHIDOL UNIVERSITY   (Thailand)

^k HOSPITAL KUALA LUMPUR   (Malaysia)

^l UNIVERSITY OF THE PHILIPPINES MANILA   (Philippines)

^m Children's Clinic and Human Genetics Information Resource Center   (Philippines)

ⁿ Preventive Medicine Foundation   (Taiwan)

^o Chang Gung Medical Foundation LinKou Branch   (Taiwan)

more..

Author keywords

founder effect; HPA; microsatellite marker; mutation; PTPS deficiency

Indexed keywords

6 PYRUVOL TETRAHYDROPTERIN SYNTHASE; NITRIC OXIDE SYNTHASE; OXYGENASE; SYNTHETASE; TETRAHYDROBIOPTERIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; ASIA; CHINA; CONTROLLED STUDY; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; JAPAN; MALAYSIA; MICROSATELLITE MARKER; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHILIPPINES; PRENATAL DIAGNOSIS; PTS GENE; RELIABILITY; SOUTH KOREA; TAIWAN; THAILAND;

ALTERNATIVE SPLICING; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FAR EAST; FOUNDER EFFECT; GENE FREQUENCY; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHOSPHORUS-OXYGEN LYASES; POINT MUTATION; PRENATAL DIAGNOSIS;

EID: 84863229713     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.146     Document Type: Article

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