(Q53570171)

15 May 2018

title

Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency. (English)

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15 May 2018

author name string

Hyung-Doo Park

1

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15 May 2018

You-Lim Bang

2

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15 May 2018

Kyoung Un Park

3

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15 May 2018

Jin Q Kim

4

1 reference

15 May 2018

Byung-Hoon Jeong

5

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15 May 2018

Yong-Sun Kim

6

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15 May 2018

Young-Han Song

7

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15 May 2018

Junghan Song

8

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15 May 2018

publication date

22 May 2007

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15 May 2018

Molecular Genetics and Metabolism

published in

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15 May 2018

volume

91

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15 May 2018

issue

3

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15 May 2018

page(s)

234-238

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15 May 2018

Deficiency of erythrocyte galactokinase in a patient with galactose diabetes

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.005

Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.005

Fine structure of the human galactokinase GALK1 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.005

The insertion of two amino acids into a transcriptional inducer converts it into a galactokinase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.005

Galactokinase: structure, function and role in type II galactosemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.005

Functional analysis of disease‐causing mutations in human galactokinase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.005

Molecular characterization of galactokinase deficiency in Japanese patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.005

A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.005

Novel mutations in 13 probands with galactokinase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.005

Novel mutations in the GALK1 gene in patients with galactokinase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.005

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.005

An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.005

Structure and function of enzymes of the Leloir pathway for galactose metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.005

Molecular structure of human galactokinase: implications for type II galactosemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2007.04.005

10.1016/J.YMGME.2007.04.005

7 January 2021

Identifiers

DOI

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15 May 2018

1 reference

15 May 2018