SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China

PLoS ONE

Volumn 8, Issue 9, 2013, Pages

  Song, Yuan Zong ^a   Zhang, Zhan Hui ^a   Lin, Wei Xia ^a   Zhao, Xin Jing ^a   Deng, Mei ^a   Ma, Yan Li ^a   Guo, Li ^a   Chen, Feng Ping ^a   Long, Xiao Ling ^b   He, Xiang Ling ^c   Sunada, Yoshihide ^d   Soneda, Shun ^e   Nakatomi, Akiko ^f   Dateki, Sumito ^f   Ngu, Lock Hock ^g   Kobayashi, Keiko ^h   Saheki, Takeyori ⁱ  

^a JINAN UNIVERSITY   (China)

^b Boai Hospital of Zhongshan Affiliated to Southern Medical University   (China)

^c Hunan Provincial Second People s Hospital   (China)

^d KAWASAKI MEDICAL SCHOOL   (Japan)

^e ST MARIANNA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f NAGASAKI UNIVERSITY HOSPITAL   (Japan)

^g HOSPITAL KUALA LUMPUR   (Malaysia)

^h KAGOSHIMA UNIVERSITY   (Japan)

ⁱ KUMAMOTO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; COMPLEMENTARY DNA; ERIODICTYOL 7 O GLUCOSIDE; MESSENGER RNA; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; ASIAN; CHINA; CITRULLINEMIA TYPE II; COHORT ANALYSIS; COMPUTER PROGRAM; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MALAYSIA; MALE; MISSENSE MUTATION; MOLECULAR CLONING; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; POLYMERASE CHAIN REACTION; PROTEIN DEFICIENCY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; SLC25A13 GENE; TRANSPOSON;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHINA; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DNA TRANSPOSABLE ELEMENTS; DNA, COMPLEMENTARY; FEMALE; GENE ORDER; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION; SEQUENCE ALIGNMENT;

EID: 84884374924     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0074544     Document Type: Article

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