Novel mutations in the GALK1 gene in patients with galactokinase deficiency

Human mutation

Volumn 17, Issue 1, 2001, Pages 77-78

  Murgia, Alessandra ^a   Martella, Maddalena ^a   Vinanzi, Cinzia ^a   Polli, Roberta ^a   Perilongo, Giorgio ^a   Opocher, Giuseppe ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; CYSTEINE; GALACTOKINASE; METHIONINE; PROLINE; THREONINE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL; ARTICLE; ENZYMOLOGY; FEMALE; GALACTOSEMIA; GENE DELETION; GENETICS; HUMAN; MALE; MOLECULAR GENETICS; MOUSE; MUTATION; PRESCHOOL CHILD;

ADOLESCENT; ADULT; ALANINE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; ARGININE; CHILD, PRESCHOOL; CYSTEINE; FEMALE; GALACTOKINASE; GALACTOSEMIAS; HUMANS; MALE; METHIONINE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PROLINE; SEQUENCE DELETION; THREONINE;

EID: 0035227671     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(2001)17:1<77::aid-humu20>3.0.co;2-h     Document Type: Article

References (0)