Novel mutations in 13 probands with galactokinase deficiency

Human Mutation

Volumn 15, Issue 5, 2000, Pages 447-453

  Kolosha, V ^a   Anoia, E ^a   De Cespedes, C ^b   Gitzelmann, R ^c   Shih, L ^d   Casco, T ^b   Saborio, M ^b   Trejos, R ^b   Buist, N ^e   Tedesco, T ^f   Skach, W ^e   Mitelmann, O ^a   Ledee, D ^a   Huang, K ^a   Stambolian, D ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSIDAD DE COSTA RICA   (Costa Rica)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^e OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^f UNIVERSITY OF SOUTH FLORIDA   (United States)

Author keywords

Cataract; Galactokinase; Galactokinase deficiency; Galactosemia; GK1; Mutation analysis

Indexed keywords

GALACTOKINASE;

ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GALACTOSEMIA; GENE EXPRESSION; GENE FREQUENCY; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC DRIFT; HUMAN; INFANT; MALE; NUCLEIC ACID BASE SUBSTITUTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

BASE SEQUENCE; CHILD, PRESCHOOL; CLONING, MOLECULAR; DNA TRANSPOSABLE ELEMENTS; EXONS; FEMALE; GALACTOKINASE; GALACTOSEMIAS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; RECOMBINANT PROTEINS; SEQUENCE DELETION;

EID: 0034087447     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200005)15:5<447::AID-HUMU6>3.0.CO;2-M     Document Type: Article

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