(Q69927661)

English

Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe

scientific article published on 01 December 1988

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2904404%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2904404%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

4

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L Dallaire

1 reference

Europe PubMed Central

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7 October 2019

Serge B. Melançon

3

object named as

S B Melançon

1 reference

Europe PubMed Central

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7 October 2019

1

object named as

D Sinnett

1 reference

Europe PubMed Central

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7 October 2019

author name string

L Lavergne

2

1 reference

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7 October 2019

M Potier

5

1 reference

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7 October 2019

D Labuda

6

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7 October 2019

publication date

1 December 1988

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7 October 2019

1 reference

Europe PubMed Central

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7 October 2019

81

1 reference

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7 October 2019

4-8

1 reference

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7 October 2019

1

1 reference

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7 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00283719

0 references

A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A probable sex difference in some mutation rates.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Organization of the HPRT gene and related sequences in the human genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloned cDNA sequences of the hypoxanthine/guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification of Biologically Active Globin Messenger RNA by Chromatography on Oligothymidylic acid-Cellulose

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Family studies of the Lesch-Nyhan syndrome: the use of a restriction fragment length polymorphism (RFLP) closely linked to the disease gene for carrier state and prenatal diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis and treatment of the Lesch-Nyhan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HPRT: gene structure, expression, and mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

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/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adenine phosphoribosyl transferase deficiency in association with sub-normal hypoxanthine phophoribosyl transferase in families of Lesch--Nyhan patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Answer to criticism of Morton and Lalouel

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic epidemiology of Lesch-Nyhan disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The organization of the human HPRT gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency).

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two anonymous X-specific human sequences detecting restriction fragment length polymorphisms in region Xq26?qter

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

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/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Number and evolutionary conservation of alpha- and beta-tubulin and cytoplasmic beta- and gamma-actin genes using specific cloned cDNA probes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Family studies of a Lesch-Nyhan patient from an isolated Canadian community

1 reference

https://pubmed.ncbi.nlm.nih.gov/2904404

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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