(Q47247259)

12 January 2018

title

Genetic and clinical heterogeneity in hypoxanthine phosphoribosyltransferase deficiencies (English)

1 reference

12 January 2018

Genetic and Clinical Heterogeneity in Hypoxanthine Phosphoribosyltransferase Deficiencies (English)

1 reference

Crossref

DOI

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

27 July 2024

R. Burgemeister

1 reference

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

series ordinal

1 reference

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

series ordinal

1 reference

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

series ordinal

1 reference

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

27 July 2024

language of work or name

English

0 references

publication date

1 January 1994

1 reference

12 January 2018

full work available at URL

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

1 reference

Crossref

DOI

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

Advances in Experimental Medicine and Biology

27 July 2024

published in

1 reference

12 January 2018

volume

370

1 reference

12 January 2018

page(s)

331-335

1 reference

12 January 2018

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

cites work

1 reference

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

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

27 July 2024

1 reference

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

Automated DNA sequencing of the human HPRT locus

27 July 2024

1 reference

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

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

27 July 2024

1 reference

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

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

27 July 2024

1 reference

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

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

27 July 2024

1 reference

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

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

27 July 2024

1 reference

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

27 July 2024

Identifiers

DOI

0 references

1 reference

12 January 2018