(Q52019711)

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Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8598637

Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants. (English)

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8598637

Roberto Giugliani

4

object named as

R Giugliani

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8598637

author name string

M Sommer

1

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8598637

B S Gathof

2

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8598637

T Podskarbi

3

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8598637

B Kleinlein

5

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8598637

Y S Shin

6

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8598637

publication date

1 January 1995

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8598637

Journal of Inherited Metabolic Disease

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Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8598637

18

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8598637

5

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8598637

567-576

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8598637

https://scigraph.springernature.com/pub.10.1007/bf02436001

0 references

Nucleotide sugars: determination of cellular levels and discrepancies in results.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical and molecular studies of 132 patients with galactosemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A common mutation associated with the Duarte galactosemia allele

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic basis of galactosemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies of DNA in galactose-1-phosphate uridyltransferase deficiency and the Duarte variant in Germany

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human galactose-1-phosphate uridyltransferase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA sequencing with chain-terminating inhibitors

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary structure of the Saccharomyces cerevisiae GAL7 gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Long-term outcome in 134 patients with galactosaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nucleotide sequences of the gal E gene and the gal T gene of E. coli

1 reference

https://pubmed.ncbi.nlm.nih.gov/8598637

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF02436001

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8598637

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

19 April 2018

http://europepmc.org/abstract/MED/8598637

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