Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13

Molecular Genetics and Metabolism

Volumn 105, Issue 4, 2012, Pages 553-558

  Kikuchi, Atsuo ^a   Arai Ichinoi, Natsuko ^a   Sakamoto, Osamu ^a   Matsubara, Yoichi ^b   Saheki, Takeyori ^c   Kobayashi, Keiko ^d   Ohura, Toshihro ^e   Kure, Shigeo ^a  

^a TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c TOKUSHIMA BUNRI UNIVERSITY   (Japan)

^d KAGOSHIMA UNIVERSITY   (Japan)

^e SENDAI CITY HOSPITAL   (Japan)

Author keywords

Citrin deficiency; Expanded newborn screening; Genetic diagnosis; Rapid diagnosis; SLC25A13

Indexed keywords

PROTEIN; SLC25A PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CITRIN DEFICIENCY; CLINICAL ARTICLE; DNA HYBRIDIZATION; EXON; GENETIC SCREENING; GENOTYPE; HUMAN; JAPANESE; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; CALCIUM-BINDING PROTEINS; CASE-CONTROL STUDIES; CHOLESTASIS, INTRAHEPATIC; CITRULLINEMIA; DNA; DNA PRIMERS; FEMALE; GENETIC TESTING; HUMANS; MALE; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS; MUTATION; ORGANIC ANION TRANSPORTERS; PROGNOSIS; REAL-TIME POLYMERASE CHAIN REACTION;

EID: 84858702321     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.12.024     Document Type: Article

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