(Q34017096)

English

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

author name string

Sculley DG

1

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Dawson PA

2

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Beacham IR

3

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Emmerson BT

4

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Gordon RB

5

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 October 1991

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

87

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

688-692

1 reference

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/1937471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1937471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1937471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1937471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1937471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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/1937471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DNA sequencing with chain-terminating inhibitors

1 reference

https://pubmed.ncbi.nlm.nih.gov/1937471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biochemical basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in nine families

1 reference

https://pubmed.ncbi.nlm.nih.gov/1937471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1937471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1937471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1937471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1937471

12 December 2020

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/1937471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of cDNA encoding the hypoxanthine-guanine phosphoribosyltransferase (HGPRTase) of Schistosoma mansoni; a putative target for chemotherapy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1937471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1937471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1937471

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00201727

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

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0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

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