Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency

Journal of Human Genetics

Volumn 50, Issue 7, 2005, Pages 338-346

  Lu, Yao Bang ^a   Kobayashi, Keiko ^a   Ushikai, Miharu ^a   Tabata, Ayako ^a   Iijima, Mikio ^a   Li, Meng Xian ^a   Lei, Lei ^a   Kawabe, Kotaro ^b   Taura, Satoru ^b   Yang, Yanling ^c   Liu, Tze Tze ^d   Chiang, Szu Hui ^e   Hsiao, Kwang Jen ^e   Lau, Yu Lung ^f   Tsui, Lap Chee ^f   Lee, Dong Hwan ^g   Saheki, Takeyori ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b KAGOSHIMA UNIVERSITY   (Japan)

^c PEKING UNIVERSITY FIRST HOSPITAL   (China)

^d NATIONAL YANG MING UNIVERSITY   (Taiwan)

^e TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^f UNIVERSITY OF HONG KONG   (Hong Kong)

^g Soonchunhyang University College of Medicine   (South Korea)

Author keywords

Adult onset type II citrullinemia (CTLN2); Aspartate glutamate carrier (AGC); Carrier frequency; Citrin; D7S1812; SLC25A13

Indexed keywords

CARRIER PROTEIN; ERIODICTYOL 7 O GLUCOSIDE; UNCLASSIFIED DRUG;

ARTICLE; ASIA; AUTOSOMAL RECESSIVE DISORDER; CHINA; CITRIN DEFICIENCY; CONTROLLED STUDY; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENE MUTATION; HAPLOTYPE; HETEROZYGOTE; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMAN; JAPAN; KOREA; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; POPULATION GENETICS; TAIWAN;

CALCIUM-BINDING PROTEINS; CITRULLINEMIA; DNA PRIMERS; FAR EAST; GENE COMPONENTS; HAPLOTYPES; HETEROZYGOTE DETECTION; HUMANS; MEMBRANE TRANSPORT PROTEINS; MICROSATELLITE REPEATS; MITOCHONDRIAL PROTEINS; MUTATION; ORGANIC ANION TRANSPORTERS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 23944517760     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-005-0262-8     Document Type: Article

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