A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for heredity tyrosinemia, acts as a splicing mutation

BMC Genetics

Volumn 2, Issue , 2001, Pages

  Dreumont, Natacha ^a   Poudrier, Jacques A ^a   Bergeron, Anne ^a   Levy, Harvey L ^b   Baklouti, Faouzi ^c   Tanguay, Robert M ^a  

^a UNIVERSITÉ LAVAL   (Canada)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c CENTRE DE GÉNÉTIQUE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DNA; FUMARYLACETOACETASE; GLUTAMINE; MESSENGER RNA; RNA; HYDROLASE;

ADULT; ARTICLE; BIOASSAY; CASE REPORT; DATA ANALYSIS; DISEASE ASSOCIATION; DNA DETERMINATION; EXON; FEMALE; FIBROBLAST; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; LIVER CELL; LIVER CELL CARCINOMA; LIVER NODULE; LIVER RESECTION; MISSENSE MUTATION; MOSAICISM; PROTEIN ANALYSIS; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVERTANT; RNA SPLICING; SEQUENCE ANALYSIS; SYMPTOMATOLOGY; TYROSINEMIA; GENETIC PREDISPOSITION; GENETICS; INFANT; LIVER; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE;

DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYDROLASES; INFANT; LIVER; MUTATION; MUTATION, MISSENSE; RNA SPLICING; RNA, MESSENGER; TYROSINEMIAS;

EID: 18744411016     PISSN: 14712156     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2156-2-9     Document Type: Article

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