(Q72427143)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8186419%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

title

Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: a point mutation at the consensus region of RNA splicing (HPRTKeio) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8186419%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

author name string

Yamada Y

1

1 reference

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26 October 2019

Goto H

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8186419%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

Tamura S

3

1 reference

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26 October 2019

Ogasawara N

4

1 reference

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26 October 2019

publication date

1 December 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8186419%20AND%20SRC:MED&resulttype=core&format=json

Japanese Journal of Human Genetics

26 October 2019

published in

1 reference

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26 October 2019

volume

38

1 reference

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26 October 2019

issue

4

1 reference

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26 October 2019

page(s)

413-419

1 reference

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Molecular analysis of a female Lesch-Nyhan patient

26 October 2019

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The molecular characterisation of hprtchermside and HPRTcoorparoo: two Lesch-Nyhan patients with reduced amounts of mRNA

1 reference

12 December 2020

Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency

1 reference

12 December 2020

A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects

1 reference

12 December 2020

Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification

1 reference

12 December 2020

Fine structure of the human hypoxanthine phosphoribosyltransferase gene

1 reference

12 December 2020

The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A specific enzyme defect in gout associated with overproduction of uric acid

1 reference

12 December 2020

Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese

1 reference

12 December 2020

Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase

1 reference

12 December 2020

Automated DNA sequencing of the human HPRT locus

1 reference

12 December 2020

Molecular analysis of hypoxanthine-guanine phosphoribosyltransferase mutations in five unrelated Japanese patients

1 reference

12 December 2020

Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency

1 reference

12 December 2020

A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important regi

1 reference

12 December 2020

Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF01907988

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8186419%20AND%20SRC:MED&resulttype=core&format=json

26 October 2019

1 reference