Structural and Functional Analysis of Missense Mutations in Fumarylacetoacetate Hydrolase, the Gene Deficient in Hereditary Tyrosinemia Type 1

Journal of Biological Chemistry

Volumn 276, Issue 18, 2001, Pages 15225-15231

  Bergeron, Anne ^a   D'Astous, Myreille ^a   Timm, David E ^b   Tanguay, Robert M ^a  

^a UNIVERSITÉ LAVAL   (Canada)

^b INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DEGRADATION; ENZYMES; FUNCTIONAL ASSESSMENT; GENES; MUTAGENESIS;

MISSENSE MUTATION;

BIOCHEMISTRY;

FUMARYLACETOACETASE; COMPLEMENTARY DNA; HYDROLASE; PRIMER DNA;

ARTICLE; CIRCULAR DICHROISM; CLINICAL ARTICLE; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME CONFORMATION; ESCHERICHIA COLI; HEREDITARY TYROSINEMIA TYPE 1; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN TERTIARY STRUCTURE; SITE DIRECTED MUTAGENESIS; TYROSINEMIA; ANIMAL; CELL LINE; CHEMICAL STRUCTURE; CHEMISTRY; ENZYMOLOGY; GENETICS; METABOLISM; PROTEIN CONFORMATION;

ESCHERICHIA COLI; MAMMALIA;

ANIMALS; BASE SEQUENCE; CELL LINE; CIRCULAR DICHROISM; DNA PRIMERS; DNA, COMPLEMENTARY; HUMANS; HYDROLASES; MODELS, MOLECULAR; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PROTEIN CONFORMATION; TYROSINEMIAS;

EID: 0035805626     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M009341200     Document Type: Article

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