A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping

Mitochondrion

Volumn 10, Issue 2, 2010, Pages 188-191

  Ji, Jack Q ^a   Dimmock, David ^b   Tang, Lin Ya ^a   Descartes, Maria ^c   Gomez, Roberto ^d   Rutledge, S Lane ^c   Schmitt, Eric S ^a   Wong, Lee Jun ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^d University of Alabama at Birmingham   (United States)

Author keywords

DGUOK mutation; Exon skipping; Hepatocerebral mtDNA depletion; Mitochondrial DNA depletion; Splicing site mutation

Indexed keywords

ALANINE; COMPLEMENTARY DNA; DEOXYGUANOSINE KINASE; KETONE BODY; LACTIC ACID; METHIONINE; TYROSINE;

AMINO ACID URINE LEVEL; ARTICLE; BLINDNESS; CITRIC ACID CYCLE; CONTROLLED STUDY; DNA SEQUENCE; ENZYME DEFICIENCY; EXON; FEMALE; GENE DELETION; GENETIC ANALYSIS; HEPATITIS; HETEROZYGOTE; HUMAN; INFANT; LIVER FAILURE; MALE; MITOCHONDRIAL DNA DEPLETION; NYSTAGMUS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS;

BASE SEQUENCE; BLINDNESS; DNA, COMPLEMENTARY; HEPATITIS; HOMOZYGOTE; HUMANS; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; NYSTAGMUS, PATHOLOGIC; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); RNA SPLICING; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SIBLINGS;

EID: 76049100434     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2009.11.002     Document Type: Article

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