Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme

American Journal of Human Genetics

Volumn 64, Issue 6, 1999, Pages 1563-1569

  Seppala, Raili ^a,b   Lehto, Veli Pekka ^b   Gahl, William A ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b UNIVERSITY OF OULU   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

EPIMERASE; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; BINDING SITE; CASE REPORT; CHILD; CODON; DOMINANT INHERITANCE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INBORN ERROR OF METABOLISM; MOLECULAR CLONING; NEGATIVE FEEDBACK; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SIALIC ACID URINE LEVEL;

EID: 0039546871     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302411     Document Type: Article

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