(Q24534197)

2

0 references

D Angelicheva

3

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S Onengut

4

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D Dye

5

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N U Bosshard

6

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A Jordanova

7

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A Savov

8

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P Yanakiev

9

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I Kremensky

10

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B Radeva

11

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J Hallmayer

12

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A Markov

13

0 references

V Nedkova

14

0 references

I Tournev

15

0 references

L Aneva

16

0 references

R Gitzelmann

American Journal of Human Genetics

17

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language of work or name

English

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publication date

November 1999

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published in

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volume

65

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issue

5

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page(s)

1299-307

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cites work

Fine structure of the human galactokinase GALK1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288282

MAMMALIAN GALACTOKINASE. DEVELOPMENTAL AND ADAPTIVE CHARACTERISTICS IN THE RAT LIVER

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288282

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a novel developmental disorder in Gypsies maps to 18qter

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288282

Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288282

A simple salting out procedure for extracting DNA from human nucleated cells

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288282

Combining evolutionary information and neural networks to predict protein secondary structure

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288282

Easy calculations of lod scores and genetic risks on small computers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288282

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288282

Structure of the galactokinase gene of Escherichia coli, the last (?) gene of the gal operon

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288282

Screening for phenylketonuria in a totalitarian state

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288282

The Activity of Galactose-1-phosphate Uridyltransferase and Galactokinase in Human Fetal Organs

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288282

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288282

Proof of "disease causing" mutation

27 September 2017

1 reference

12 December 2020

Deficiency of erythrocyte galactokinase in a patient with galactose diabetes

1 reference

12 December 2020

Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn

1 reference

12 December 2020

Detection of heterozygotes for galactokinase deficiency in a human population

1 reference

12 December 2020

Biochemical characteristics of galactokinase from adult and fetal human red cells

1 reference

12 December 2020

[The activity of the enzyme galactokinase in the erythrocytes of healthy children and adults (author's transl)]

1 reference

12 December 2020

[A case of galactosemia caused by galactokinase deficiency]

1 reference

12 December 2020

Cataracts in patients heterozygous for galactokinase deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1086/302611

1 reference

2727947

2727947

1 reference

1 reference

1 reference