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

11 December 2017

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

1 reference

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

3 January 2023

0 references

1 reference

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

3 January 2023

author name string

B. L. Davidson

1

1 reference

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

2

1 reference

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

1 reference

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

4

1 reference

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

3 January 2023

language of work or name

English

0 references

publication date

1 March 1988

1 reference

11 December 2017

31 March 1988

1 reference

National Center for Biotechnology Information

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

full work available at URL

3 January 2023

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

1 reference

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

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

3 January 2023

1 reference

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

3 January 2023

1 reference

11 December 2017

63

1 reference

11 December 2017

331-336

1 reference

11 December 2017

2

1 reference

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

11 December 2017

5

1 reference

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

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

3 January 2023

6

1 reference

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

Empirical Predictions of Protein Conformation

3 January 2023

7

1 reference

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

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

3 January 2023

8

1 reference

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

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

3 January 2023

9

1 reference

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

A simple and very efficient method for generating cDNA libraries

3 January 2023

10

1 reference

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

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

3 January 2023

11

1 reference

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

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

3 January 2023

13

1 reference

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

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

3 January 2023

14

1 reference

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

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

3 January 2023

15

1 reference

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

High-Efficiency Cloning of Full-Length cDNA

3 January 2023

16

1 reference

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

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

3 January 2023

17

1 reference

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

Nucleotide sequence of theEsherichia colixanthine-guanine phosphoribosyl transferase gene

3 January 2023

18

1 reference

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

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

3 January 2023

19

1 reference

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

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

3 January 2023

20

1 reference

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

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

3 January 2023

22

1 reference

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

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

3 January 2023

24

1 reference

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

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

3 January 2023

25

1 reference

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

Efficient isolation of genes by using antibody probes

3 January 2023

26

1 reference

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

3 January 2023

Identifiers

1 reference

11 December 2017

1 reference