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Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
Nat Genet. 1995 Jul; 10(3):307-12.NGen

Abstract

Galactokinase is an essential enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. We have cloned the human galactokinase cDNA, which maps to chromosome 17q24, and show that the isolated cDNA expresses galactokinase activity in bacteria and mammalian cells. We also describe two different mutations in this gene in unrelated families with galactokinase deficiency and cataracts. The availability of the cloned galactokinase gene provides an important reference to identify mutations in patients with galactokinase deficiency and cataracts.

Authors+Show Affiliations

Department of Ophthalmology, School of Medicine, University of Pennsylvania, Philadelphia 19104, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

7670469

Citation

Stambolian, D, et al. "Cloning of the Galactokinase cDNA and Identification of Mutations in Two Families With Cataracts." Nature Genetics, vol. 10, no. 3, 1995, pp. 307-12.
Stambolian D, Ai Y, Sidjanin D, et al. Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. Nat Genet. 1995;10(3):307-12.
Stambolian, D., Ai, Y., Sidjanin, D., Nesburn, K., Sathe, G., Rosenberg, M., & Bergsma, D. J. (1995). Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. Nature Genetics, 10(3), 307-12.
Stambolian D, et al. Cloning of the Galactokinase cDNA and Identification of Mutations in Two Families With Cataracts. Nat Genet. 1995;10(3):307-12. PubMed PMID: 7670469.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. AU - Stambolian,D, AU - Ai,Y, AU - Sidjanin,D, AU - Nesburn,K, AU - Sathe,G, AU - Rosenberg,M, AU - Bergsma,D J, PY - 1995/7/1/pubmed PY - 1995/7/1/medline PY - 1995/7/1/entrez SP - 307 EP - 12 JF - Nature genetics JO - Nat. Genet. VL - 10 IS - 3 N2 - Galactokinase is an essential enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. We have cloned the human galactokinase cDNA, which maps to chromosome 17q24, and show that the isolated cDNA expresses galactokinase activity in bacteria and mammalian cells. We also describe two different mutations in this gene in unrelated families with galactokinase deficiency and cataracts. The availability of the cloned galactokinase gene provides an important reference to identify mutations in patients with galactokinase deficiency and cataracts. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/7670469/Cloning_of_the_galactokinase_cDNA_and_identification_of_mutations_in_two_families_with_cataracts_ L2 - http://dx.doi.org/10.1038/ng0795-307 DB - PRIME DP - Unbound Medicine ER -