(Q52012199)

English

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

scientific article published in December 1995

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scholarly article

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8522334

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

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8522334

Juergen Reichardt

4

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8522334

author name string

B S Gathof

1

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8522334

M Sommer

2

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8522334

T Podskarbi

3

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8522334

A Braun

5

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8522334

U Gresser

6

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8522334

Y S Shin

7

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8522334

publication date

1 December 1995

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8522334

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8522334

96

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8522334

721-725

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8522334

6

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8522334

https://scigraph.springernature.com/pub.10.1007/bf00210306

0 references

Biochemical and molecular studies of 132 patients with galactosemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8522334

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/8522334

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/8522334

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic basis of galactosemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8522334

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/8522334

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/8522334

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/8522334

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/8522334

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/8522334

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/8522334

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/8522334

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00210306

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8522334

1 reference

Europe PubMed Central

19 April 2018

http://europepmc.org/abstract/MED/8522334

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