The FH mutation database: An online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency

BMC Medical Genetics

Volumn 9, Issue , 2008, Pages

  Bayley, Jean Pierre ^a   Launonen, Virpi ^b   Tomlinson, Ian P M ^c  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF HELSINKI   (Finland)

^c IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FUMARATE HYDRATASE;

ARTICLE; CITRIC ACID CYCLE; CONGENITAL FUMARASE DEFICIENCY; ENZYME DEFICIENCY; FH MUTATION DATABASE; FRAMESHIFT MUTATION; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC DATABASE; GENETIC VARIABILITY; HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HUMAN; KIDNEY CANCER; LEIOMYOMA; MISSENSE MUTATION; MOLECULAR DYNAMICS; MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMA; NONSENSE MUTATION; ONLINE SYSTEM; ENZYMOLOGY; FEMALE; GENETICS; INBORN ERROR OF METABOLISM; KIDNEY CARCINOMA; KIDNEY TUMOR; LEIOMYOMATOSIS; MUTATION; NUCLEIC ACID DATABASE; SKIN TUMOR; TUMOR SUPPRESSOR GENE; UTERUS CANCER;

CARCINOMA, RENAL CELL; DATABASES, NUCLEIC ACID; FEMALE; FUMARATE HYDRATASE; GENES, TUMOR SUPPRESSOR; GERM-LINE MUTATION; HUMANS; KIDNEY NEOPLASMS; LEIOMYOMATOSIS; METABOLISM, INBORN ERRORS; SKIN NEOPLASMS; UTERINE NEOPLASMS;

EID: 42449137948     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-9-20     Document Type: Article

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