Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations

Human Mutation

Volumn 19, Issue 2, 2002, Pages 122-130

  Yamaguchi, Naoki ^a   Kobayashi, Keiko ^a   Yasuda, Tomotsugu ^a   Nishi, Ikumi ^a   Iijima, Mikio ^a   Nakagawa, Masanori ^a   Osame, Mitsuhiro ^a   Kondo, Ikuko ^b   Saheki, Takeyori ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b EHIME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Adult onset type II citrullinemia; Citrin deficiency; CTLN2; Japanese; Liver disease; Multiple DNA diagnosis; Mutation detection; Neonatal intrahepatic cholestasis caused by citrin deficiency; NICCD; SLC25A13

Indexed keywords

ANALYZER; ARTICLE; CHOLESTASIS; CHROMOSOME 7Q; CITRULLINEMIA; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEWBORN HEPATITIS; NUCLEOTIDE SEQUENCE; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; SEX DIFFERENCE; SLC25A13 GENE; TECHNIQUE;

AGE OF ONSET; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CALCIUM-BINDING PROTEINS; CHOLESTASIS; CITRULLINEMIA; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC SCREENING; GENOTYPE; HEPATITIS; HUMANS; INFANT, NEWBORN; JAPAN; MALE; MEMBRANE TRANSPORT PROTEINS; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0036165970     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10022     Document Type: Article

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