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Novel mutations in 13 probands with galactokinase deficiency.
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.
Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
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. Copyright 2000 Wiley-Liss, Inc.
PMID: 10790206 [PubMed - indexed for MEDLINE]
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Cited by 2 PubMed Central articles
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A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype.
Park HD, Kim YK, Park KU, Kim JQ, Song YH, Song J.
BMC Med Genet. 2009 Mar 24; 10:29. Epub 2009 Mar 24.
[BMC Med Genet. 2009]
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A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.
Okano Y, Asada M, Fujimoto A, Ohtake A, Murayama K, Hsiao KJ, Choeh K, Yang Y, Cao Q, Reichardt JK, et al.
Am J Hum Genet. 2001 Apr; 68(4):1036-42. Epub 2001 Feb 23.
[Am J Hum Genet. 2001]