A 5-methylcytosine hotspot responsible for the prevalent HSD17B10 mutation

Gene

Volumn 515, Issue 2, 2013, Pages 380-384

  Yang, Song Yu ^a   Dobkin, Carl ^a   He, Xue Ying ^a   Philipp, Manfred ^b   Brown, W Ted ^a  

^a NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^b CITY UNIVERSITY OF NEW YORK   (United States)

Author keywords

Gene mutation; Imbalance of neurosteroid metabolism; Inherited metabolic disease; Methylation analysis; Multifunctional enzyme

Indexed keywords

2 METHYL 3 HYDROXYBUTYRYL COA DEHYDROGENASE; 5 METHYLCYTOSINE; CYTOSINE; HYDROXYSTEROID(17BETA)DEHYDROGENASE 10; OXIDOREDUCTASE; THYMINE; THYMOCYTE ANTIBODY; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CATALYSIS; DEAMINATION; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HUMAN; HYDROGEN BOND; MALE; META ANALYSIS (TOPIC); METHYLATION; PREVALENCE; PRIORITY JOURNAL; PROTEIN STRUCTURE; X CHROMOSOME;

3-HYDROXYACYL COA DEHYDROGENASES; 5-METHYLCYTOSINE; ACETYL-COA C-ACETYLTRANSFERASE; BASE SEQUENCE; DNA METHYLATION; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; HYDROGEN BONDING; LIPID METABOLISM, INBORN ERRORS; MALE; META-ANALYSIS AS TOPIC; MODELS, MOLECULAR; MUTATION, MISSENSE; POINT MUTATION; PROTEIN STRUCTURE, QUATERNARY; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ANALYSIS, DNA;

EID: 84872485986     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.12.064     Document Type: Article

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