A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: Identification of three novel mutations of the FM03 gene

Molecular Genetics and Metabolism

Volumn 88, Issue 2, 2006, Pages 192-195

  Teresa, Esposito ^a,f   Lonardo, Fortunato ^b   Fiumara, Agata ^c   Lombardi, Cinzia ^b   Russo, Paola ^a   Zuppi, Cecilia ^d   Scarano, Gioacchino ^b   Musumeci, Salvatore ^e   Gianfrancesco, Fernando ^a,f  

^a CNR   (Italy)

^b G RUMMO HOSPITAL   (Italy)

^c UNIVERSITY OF CATANIA   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

^e UNIVERSITY OF SASSARI   (Italy)

^f IRCCS NEUROMED   (Italy)

Author keywords

Fish odor syndrome; FMO3 gene; Mutation; Trimethylamine; Trimethylaminuria

Indexed keywords

AMINO ACID; GUANIDINE;

ARTICLE; CASE REPORT; CODON; COHORT ANALYSIS; DIET; DISEASE COURSE; DNA POLYMORPHISM; ENVIRONMENTAL EXPOSURE; EXON; FAMILY; FEMALE; FM03 GENE; GENE; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; INBORN ERROR OF METABOLISM; ITALY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; TRIMETHYLAMINURIA;

COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; HAPLOTYPES; HETEROZYGOTE; HUMANS; ITALY; MALE; METABOLISM, INBORN ERRORS; METHYLAMINES; MUTATION, MISSENSE; ODORS; OXYGENASES; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 33646428097     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.02.014     Document Type: Article

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