Combined malonic and methylmalonic aciduria: Exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype

Journal of Medical Genetics

Volumn 48, Issue 9, 2011, Pages 602-605

  Alfares, Ahmed ^a,b   Nunez, Laura Dempsey ^b   Al Thihli, Khalid ^a,b   Mitchell, John ^b   Melançon, Serge ^a,b   Anastasio, Natascia ^b   Ha, Kevin C H ^b   Majewski, Jacek ^a,b   Rosenblatt, David S ^a,b   Braverman, Nancy ^b,c  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

LONG CHAIN FATTY ACID COENZYME A LIGASE;

ACSF3 GENE; ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; COMBINED MALONIC AND METHYLMALONIC ACIDURIA; ETHNICITY; EXOME SEQUENCING; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC PROCEDURES; GENETIC SCREENING; HUMAN; INBORN ERROR OF METABOLISM; MALE; METHYLMALONIC ACIDURIA; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; URINALYSIS;

ALLELES; AMINO ACID METABOLISM, INBORN ERRORS; BASE SEQUENCE; CARBOXY-LYASES; COENZYME A LIGASES; EXOME; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALONATES; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 80052565471     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100230     Document Type: Article

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