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Higher frequency of the galactose-1-phosphate uridyl transferase gene K285N mutation in the Slovenian population.

Abstract：

OBJECTIVES:To analyze a healthy Slovenian population for the frequency of the classical galactosemia allele K285N. DESIGN AND METHODS:DNA was analyzed by means of polymerase chain reaction and restriction fragment length polymorphism. RESULTS:The allele frequency of the K285N mutation in Slovenian population is 0.29%. CONCLUSIONS:The allele frequency of the K285N mutation in Slovenian population is higher than in other Caucasian populations. K285N is one of the most frequent classical galactosemia mutations in the Slovenian population.

journal_name

Clin Biochem

journal_title

Clinical biochemistry

authors

Lukac-Bajalo J,Kuzelicki NK,Zitnik IP,Mencej S,Battelino T

doi

10.1016/j.clinbiochem.2006.11.004

subject

Has Abstract

pub_date

2007-03-01 00:00:00

pages

414-5

issue

5-6

eissn

0009-9120

issn

1873-2933

pii

S0009-9120(06)00380-8

journal_volume

40

pub_type

杂志文章

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