Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE). (Q34031328)

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English	Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).	scientific article

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Europe PubMed Central

PubMed publication ID

30 July 2017

Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE). (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

1 reference

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author name string

Gordon RB

1

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Sculley DG

2

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Dawson PA

3

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Beacham IR

4

1 reference

Europe PubMed Central

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30 July 2017

Emmerson BT

5

1 reference

Europe PubMed Central

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30 July 2017

publication date

1 January 1990

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Europe PubMed Central

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30 July 2017

Journal of Inherited Metabolic Disease

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Europe PubMed Central

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30 July 2017

13

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Europe PubMed Central

PubMed publication ID

30 July 2017

5

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Europe PubMed Central

PubMed publication ID

30 July 2017

692-700

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Europe PubMed Central

PubMed publication ID

30 July 2017

Molecular studies of hypoxanthine-guanine phosphoribosyltransferase mutations in six Australian families

1 reference

https://pubmed.ncbi.nlm.nih.gov/2246854

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The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2246854

12 December 2020

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A program for prediction of protein secondary structure from nucleotide sequence data: application to histocompatibility antigens

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https://pubmed.ncbi.nlm.nih.gov/2246854

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

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A simple and very efficient method for generating cDNA libraries

1 reference

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12 December 2020

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A simple method for displaying the hydropathic character of a protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/2246854

12 December 2020

based on heuristic

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HPRT: gene structure, expression, and mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/2246854

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Urate kinetics in hypoxanthine-guanine phosphoribosyltransferase deficiency: their significance for the understanding of gout

1 reference

https://pubmed.ncbi.nlm.nih.gov/2246854

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2246854

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2246854

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The rate of spontaneous mutation of a human gene. 1935.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2246854

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DNA sequencing with chain-terminating inhibitors

1 reference

https://pubmed.ncbi.nlm.nih.gov/2246854

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Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families

1 reference

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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://pubmed.ncbi.nlm.nih.gov/2246854

12 December 2020

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The use of folding patterns in the search of protein structural similarities; a three-dimensional model of phosphoribosyl transferases

1 reference

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An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

1 reference

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A possible nucleotide-binding domain in the tertiary fold of phosphoribosyltransferases

1 reference

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2246854

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based on heuristic

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The Lesch-Nyhan syndrome: clinical, molecular and genetic aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/2246854

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based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2246854

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Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme

1 reference

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Absence of measurable linkage between the loci for hypoxanthine-guanine phosphoribosyltransferase and deutan colorblindness

1 reference

https://pubmed.ncbi.nlm.nih.gov/2246854

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based on heuristic

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Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://pubmed.ncbi.nlm.nih.gov/2246854

12 December 2020

based on heuristic

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The rate of spontaneous mutation of a human gene

1 reference

9 November 2024

https://opencitations.net/index/api/v1/references/10.1007/BF01799570

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10.1007/BF01799570

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

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