Human UDP-galactose 4' epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency galactosemia

Molecular Genetics and Metabolism

Volumn 63, Issue 1, 1998, Pages 26-30

  Maceratesi, Patrizia ^a,b   Daude, Natalie ^a   Dallapiccola, Bruno ^b   Novelli, Giuseppe ^b   Allen, Richard ^c   Okano, Yoshiyuki ^d   Reichardt, Juergen ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

^c UNIVERSITY OF MICHIGAN   (United States)

^d Osaka Prefecture University   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; ENZYME DEFICIENCY; GALACTOSEMIA; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HETEROZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; MISSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

GALE;

EID: 0031669072     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1997.2645     Document Type: Article

References (14)

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