Novel mutations in 13 probands with galactokinase deficiency.Hum Mutat. 2000; 15(5):447-53.HM
Abstract
Galactokinase is an essential enzyme in the metabolism of galactose. Patients with deficiencies in galactokinase exhibit early-onset cataracts. We examined the sequence of the human galactokinase gene (GK1) from 13 patients exhibiting galactokinase deficiency and identified 12 novel mutations. One of the mutations occurred in six of the 13 probands examined, and the remaining 11 were unique mutations. Expression of each of the mutant GK1 genes in Xenopus oocytes resulted in very low galactokinase activity levels. These results provide important information regarding the types of GK1 mutations that occur in the human population.
Links
MeSH
Pub Type(s)
Journal Article
Research Support, U.S. Gov't, P.H.S.
Language
eng
PubMed ID
10790206
Citation
Kolosha, V, et al. "Novel Mutations in 13 Probands With Galactokinase Deficiency." Human Mutation, vol. 15, no. 5, 2000, pp. 447-53.
Kolosha V, Anoia E, de Cespedes C, et al. Novel mutations in 13 probands with galactokinase deficiency. Hum Mutat. 2000;15(5):447-53.
Kolosha, V., Anoia, E., de Cespedes, C., Gitzelmann, R., Shih, L., Casco, T., Saborio, M., Trejos, R., Buist, N., Tedesco, T., Skach, W., Mitelmann, O., Ledee, D., Huang, K., & Stambolian, D. (2000). Novel mutations in 13 probands with galactokinase deficiency. Human Mutation, 15(5), 447-53.
Kolosha V, et al. Novel Mutations in 13 Probands With Galactokinase Deficiency. Hum Mutat. 2000;15(5):447-53. PubMed PMID: 10790206.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - Novel mutations in 13 probands with galactokinase deficiency.
AU - Kolosha,V,
AU - Anoia,E,
AU - de Cespedes,C,
AU - Gitzelmann,R,
AU - Shih,L,
AU - Casco,T,
AU - Saborio,M,
AU - Trejos,R,
AU - Buist,N,
AU - Tedesco,T,
AU - Skach,W,
AU - Mitelmann,O,
AU - Ledee,D,
AU - Huang,K,
AU - Stambolian,D,
PY - 2000/5/2/pubmed
PY - 2000/6/3/medline
PY - 2000/5/2/entrez
SP - 447
EP - 53
JF - Human mutation
JO - Hum Mutat
VL - 15
IS - 5
N2 - Galactokinase is an essential enzyme in the metabolism of galactose. Patients with deficiencies in galactokinase exhibit early-onset cataracts. We examined the sequence of the human galactokinase gene (GK1) from 13 patients exhibiting galactokinase deficiency and identified 12 novel mutations. One of the mutations occurred in six of the 13 probands examined, and the remaining 11 were unique mutations. Expression of each of the mutant GK1 genes in Xenopus oocytes resulted in very low galactokinase activity levels. These results provide important information regarding the types of GK1 mutations that occur in the human population.
SN - 1059-7794
UR - https://www.unboundmedicine.com/medline/citation/10790206/Novel_mutations_in_13_probands_with_galactokinase_deficiency_
L2 - https://doi.org/10.1002/(SICI)1098-1004(200005)15:5<447::AID-HUMU6>3.0.CO;2-M
DB - PRIME
DP - Unbound Medicine
ER -