Mutational spectrum of classical galactosaemia in Spain and Portugal. (Q52805251)

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scientific article published on 14 October 2006

Language	Label	Description	Also known as
English	Mutational spectrum of classical galactosaemia in Spain and Portugal.	scientific article published on 14 October 2006

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

8 May 2018

http://europepmc.org/abstract/MED/17041746

Mutational spectrum of classical galactosaemia in Spain and Portugal. (English)

1 reference

Europe PubMed Central

PubMed publication ID

8 May 2018

http://europepmc.org/abstract/MED/17041746

0 references

5

1 reference

Europe PubMed Central

PubMed publication ID

8 May 2018

http://europepmc.org/abstract/MED/17041746

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L Gort

1

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author name string

M D Boleda

2

1 reference

Europe PubMed Central

PubMed publication ID

8 May 2018

http://europepmc.org/abstract/MED/17041746

L Tyfield

3

1 reference

Europe PubMed Central

PubMed publication ID

8 May 2018

http://europepmc.org/abstract/MED/17041746

L Vilarinho

4

1 reference

Europe PubMed Central

PubMed publication ID

8 May 2018

http://europepmc.org/abstract/MED/17041746

M L Cardoso

6

1 reference

Europe PubMed Central

PubMed publication ID

8 May 2018

http://europepmc.org/abstract/MED/17041746

M Santos-Leite

7

1 reference

Europe PubMed Central

PubMed publication ID

8 May 2018

http://europepmc.org/abstract/MED/17041746

M Girós

8

1 reference

Europe PubMed Central

PubMed publication ID

8 May 2018

http://europepmc.org/abstract/MED/17041746

P Briones

9

1 reference

Europe PubMed Central

PubMed publication ID

8 May 2018

http://europepmc.org/abstract/MED/17041746

publication date

14 October 2006

1 reference

Europe PubMed Central

PubMed publication ID

8 May 2018

http://europepmc.org/abstract/MED/17041746

Journal of Inherited Metabolic Disease

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Europe PubMed Central

PubMed publication ID

8 May 2018

http://europepmc.org/abstract/MED/17041746

29

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Europe PubMed Central

PubMed publication ID

8 May 2018

http://europepmc.org/abstract/MED/17041746

6

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Europe PubMed Central

PubMed publication ID

8 May 2018

http://europepmc.org/abstract/MED/17041746

739-742

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Europe PubMed Central

PubMed publication ID

8 May 2018

http://europepmc.org/abstract/MED/17041746

Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041746

12 December 2020

based on heuristic

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The molecular basis of transferase galactosaemia in South African negroids

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041746

12 December 2020

based on heuristic

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Molecular analysis in newborns from Texas affected with galactosemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041746

12 December 2020

based on heuristic

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Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041746

12 December 2020

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Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041746

12 December 2020

based on heuristic

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Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041746

12 December 2020

based on heuristic

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Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041746

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041746

12 December 2020

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inferred from PubMed ID database lookup

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041746

12 December 2020

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inferred from PubMed ID database lookup

Experimental design: a useful tool for PCR Optimization.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041746

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Iberia: population genetics, anthropology, and linguistics

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041746

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inferred from PubMed ID database lookup

Identifiers

10.1007/S10545-006-0356-2

1 reference

Europe PubMed Central

PubMed publication ID

8 May 2018

http://europepmc.org/abstract/MED/17041746

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https://api.fatcat.wiki/v0/release/xtqiipha5bgfljrs2pufaaqfyu

24 November 2022

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mapped directly with Wikidata item

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 May 2018

http://europepmc.org/abstract/MED/17041746

ResearchGate publication ID

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