High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan

Clinica Chimica Acta

Volumn 412, Issue 5-6, 2011, Pages 460-465

  Lin, Jing Ting ^a   Hsiao, Kwang Jen ^b,e   Chen, Chiung Yu ^c   Wu, Cheng Chung ^d   Lin, Shio Jean ^c   Chou, Yen Yin ^c   Shiesh, Shu Chu ^a  

^a NATIONAL CHENG KUNG UNIVERSITY   (Taiwan)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^c NATIONAL CHENG KUNG UNIVERSITY HOSPITAL   (Taiwan)

^d TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^e TAIPEI CITY HOSPITAL   (Taiwan)

Author keywords

Citrullinemia; High resolution melting analysis; NICCD; SLC25A13

Indexed keywords

CALCIUM BINDING PROTEIN; ERIODICTYOL 7 O GLUCOSIDE; UNCLASSIFIED DRUG;

ANALYTIC METHOD; ARTICLE; BLOOD SAMPLING; CITRULLINEMIA TYPE II; CONTROLLED STUDY; EXON; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HETEROZYGOTE DETECTION; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; HUMAN TISSUE; INTRAHEPATIC CHOLESTASIS; INTRON; LIVER BIOPSY; LIVER CELL CARCINOMA; MAJOR CLINICAL STUDY; MITOCHONDRIAL GENE; NEONATAL INTRAHEPATIC CHOLESTASIS CAUSED BY CITRIN DEFICIENCY; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PROTEIN FUNCTION; SLC25A13 GENE; TAIWAN;

CARCINOMA, HEPATOCELLULAR; CHOLESTASIS, INTRAHEPATIC; GENOTYPE; HUMANS; LIVER NEOPLASMS; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MUTATION; NUCLEIC ACID DENATURATION; POLYMERASE CHAIN REACTION; TAIWAN; TRANSITION TEMPERATURE;

EID: 78650907102     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2010.11.027     Document Type: Article

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