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Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint) (Q45266927)

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scientific article published on March 31, 1988

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English	Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint)	scientific article published on March 31, 1988

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scholarly article

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Europe PubMed Central

PubMed publication ID

11 December 2017

Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint) (English)

1 reference

10.1016/0378-1119(88)90536-7

https://api.crossref.org/works/10.1016/0378-1119(88)90536-7

3 January 2023

Lesch-Nyhan syndrome

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10.1016/0378-1119(88)90536-7

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author name string

B. L. Davidson

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3384338

3 January 2023

M. Pashmforoush

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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%3A3384338

3 January 2023

W. N. Kelley

3

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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%3A3384338

3 January 2023

T. D. Palella

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3 January 2023

publication date

1 March 1988

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11 December 2017

31 March 1988

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National Center for Biotechnology Information

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=3384338

3 January 2023

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https://api.elsevier.com/content/article/PII:0378111988905367?httpAccept=text/xml

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10.1016/0378-1119(88)90536-7

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3 January 2023

https://api.elsevier.com/content/article/PII:0378111988905367?httpAccept=text/plain

1 reference

10.1016/0378-1119(88)90536-7

https://api.crossref.org/works/10.1016/0378-1119(88)90536-7

3 January 2023

1 reference

Europe PubMed Central

PubMed publication ID

11 December 2017

63

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Europe PubMed Central

PubMed publication ID

11 December 2017

2

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Europe PubMed Central

PubMed publication ID

11 December 2017

331-336

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Europe PubMed Central

PubMed publication ID

11 December 2017

Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency

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10.1016/0378-1119(88)90536-7

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Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

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10.1016/0378-1119(88)90536-7

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Empirical Predictions of Protein Conformation

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Nucleotide sequence and organization of the mouse adenine phosphoribosyltransferase gene: presence of a coding region common to animal and bacterial phosphoribosyltransferases that has a variable intron/exon arrangement

8

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Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage

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A simple and very efficient method for generating cDNA libraries

10

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Nucleotide sequence and deduced amino acid sequence of Escherichia coli adenine phosphoribosyltransferase and comparison with other analogous enzymes

11

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10.1016/0378-1119(88)90536-7

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Hypoxanthine-guanine phosphoribosyltransferase genes of mouse and Chinese hamster: construction and sequence analysis of cDNA recombinants

13

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

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A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION

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High-Efficiency Cloning of Full-Length cDNA

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Nucleotide sequence of the Escherichia coli pyrE gene and of the DNA in front of the protein-coding region

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Nucleotide sequence of theEsherichia colixanthine-guanine phosphoribosyl transferase gene

18

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Mechanisms and applications of DNA-mediated gene transfer in mammalian cells — a review

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

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Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme

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A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

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Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

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Efficient isolation of genes by using antibody probes

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10.1016/0378-1119(88)90536-7

1 reference

Europe PubMed Central

PubMed publication ID

11 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 December 2017

ResearchGate publication ID

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