(Q80502807)

English

Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille)

scientific article published on 01 January 2004

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15334740%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille) (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15334740%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

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B Dussol

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15334740%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

I Ceballos-Picot

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15334740%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

B Aral

3

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Europe PubMed Central

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1 January 2020

V Castera

4

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1 January 2020

N Philip

5

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1 January 2020

Y Berland

6

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1 January 2020

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1 January 2004

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Europe PubMed Central

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1 January 2020

Journal of Inherited Metabolic Disease

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15334740%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

27

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1 January 2020

4

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1 January 2020

543-545

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1 January 2020

Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient

1 reference

https://api.crossref.org/works/10.1023%2FB%3ABOLI.0000037399.72152.A9

7 January 2021

based on heuristic

inferred from DOI database lookup

The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP

1 reference

https://api.crossref.org/works/10.1023%2FB%3ABOLI.0000037399.72152.A9

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).

1 reference

https://api.crossref.org/works/10.1023%2FB%3ABOLI.0000037399.72152.A9

7 January 2021

based on heuristic

inferred from DOI database lookup

The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases

1 reference

https://api.crossref.org/works/10.1023%2FB%3ABOLI.0000037399.72152.A9

7 January 2021

based on heuristic

inferred from DOI database lookup

Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families

1 reference

https://api.crossref.org/works/10.1023%2FB%3ABOLI.0000037399.72152.A9

7 January 2021

based on heuristic

inferred from DOI database lookup

Biochemical and molecular study of mentally retarded patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase

1 reference

https://api.crossref.org/works/10.1023%2FB%3ABOLI.0000037399.72152.A9

7 January 2021

based on heuristic

inferred from DOI database lookup

The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families

1 reference

https://api.crossref.org/works/10.1023%2FB%3ABOLI.0000037399.72152.A9

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families

1 reference

https://api.crossref.org/works/10.1023%2FB%3ABOLI.0000037399.72152.A9

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel point mutation (I137T) in the conserved 5-phosphoribosyl-1-pyrophosphate binding motif of hypoxanthine-guanine phosphoribosyltransferase (HPRTJerusalem) in a variant of Lesch-Nyhan syndrome

1 reference

https://api.crossref.org/works/10.1023%2FB%3ABOLI.0000037399.72152.A9

7 January 2021

based on heuristic

inferred from DOI database lookup

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