(Q47247259)

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Genetic and Clinical Heterogeneity in Hypoxanthine Phosphoribosyltransferase Deficiencies

scientific article published on January 1, 1994

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Europe PubMed Central

PubMed publication ID

12 January 2018

http://europepmc.org/abstract/MED/7660921

Genetic and clinical heterogeneity in hypoxanthine phosphoribosyltransferase deficiencies (English)

1 reference

Europe PubMed Central

PubMed publication ID

12 January 2018

http://europepmc.org/abstract/MED/7660921

Genetic and Clinical Heterogeneity in Hypoxanthine Phosphoribosyltransferase Deficiencies (English)

1 reference

10.1007/978-1-4615-2584-4_71

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_71

27 July 2024

author name string

W Gutensohn

2

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Europe PubMed Central

PubMed publication ID

12 January 2018

http://europepmc.org/abstract/MED/7660921

G Van den Berghe

3

1 reference

Europe PubMed Central

PubMed publication ID

12 January 2018

http://europepmc.org/abstract/MED/7660921

J Jaeken

4

1 reference

Europe PubMed Central

PubMed publication ID

12 January 2018

http://europepmc.org/abstract/MED/7660921

R. Burgemeister

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7660921

27 July 2024

W. Gutensohn

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7660921

27 July 2024

G. Van den Berghe

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7660921

27 July 2024

J. Jaeken

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7660921

27 July 2024

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publication date

1 January 1994

1 reference

Europe PubMed Central

PubMed publication ID

12 January 2018

http://europepmc.org/abstract/MED/7660921

full work available at URL

http://link.springer.com/content/pdf/10.1007/978-1-4615-2584-4_71

1 reference

10.1007/978-1-4615-2584-4_71

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_71

27 July 2024

Advances in Experimental Medicine and Biology

1 reference

Europe PubMed Central

PubMed publication ID

12 January 2018

http://europepmc.org/abstract/MED/7660921

370

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Europe PubMed Central

PubMed publication ID

12 January 2018

http://europepmc.org/abstract/MED/7660921

331-335

1 reference

Europe PubMed Central

PubMed publication ID

12 January 2018

http://europepmc.org/abstract/MED/7660921

Normal ranges of the activities of ten different enzymes in 100 independent preparations of chorionic villi. Comparison of specimens from induced abortions, biopsies, and cultured cells

1

1 reference

10.1007/978-1-4615-2584-4_71

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_71

27 July 2024

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts

2

1 reference

10.1007/978-1-4615-2584-4_71

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_71

27 July 2024

Automated DNA sequencing of the human HPRT locus

4

1 reference

10.1007/978-1-4615-2584-4_71

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_71

27 July 2024

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

5

1 reference

10.1007/978-1-4615-2584-4_71

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_71

27 July 2024

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families

6

1 reference

10.1007/978-1-4615-2584-4_71

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_71

27 July 2024

Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests

7

1 reference

10.1007/978-1-4615-2584-4_71

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_71

27 July 2024

Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects

8

1 reference

10.1007/978-1-4615-2584-4_71

https://api.crossref.org/works/10.1007/978-1-4615-2584-4_71

27 July 2024

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10.1007/978-1-4615-2584-4_71

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

12 January 2018

http://europepmc.org/abstract/MED/7660921

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