(Q34036329)

30 July 2017

Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures (English)

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30 July 2017

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4

Dallaire L

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30 July 2017

5

Melancon SB

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30 July 2017

Skopek TR

1

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30 July 2017

Recio L

2

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30 July 2017

Simpson D

3

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30 July 2017

Ogier H

6

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30 July 2017

O'Neill JP

7

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30 July 2017

Falta MT

8

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30 July 2017

Nicklas JA

9

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30 July 2017

Albertini RJ

10

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30 July 2017

1 June 1990

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30 July 2017

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30 July 2017

85

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30 July 2017

1

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30 July 2017

111-116

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https://scigraph.springernature.com/pub.10.1007/bf00276334

30 July 2017

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cites work

Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects

1 reference

12 December 2020

Molecular analyses of in vivo hprt mutations in human T-lymphocytes. I. Studies of low frequency 'spontaneous' mutants by Southern blots

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase: a single nucleotide substitution in cDNA clones isolated from a patient with Lesch-Nyhan syndrome (HPRTMidland).

1 reference

12 December 2020

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

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12 December 2020

A simple method for displaying the hydropathic character of a protein

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Mutagenicity monitoring in humans by autoradiographic assay for mutant T lymphocytes.

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12 December 2020

Longitudinal study of the in vivo hprt mutant frequency in human T-lymphocytes as determined by a cell cloning assay.

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12 December 2020

Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor).

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Genetic analysis of human hypoxanthine-guanine phosphoribosyltransferase deficiency

1 reference

12 December 2020

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

1 reference

12 December 2020

A method for specific cloning and sequencing of human hprt cDNA for mutation analysis

1 reference

12 December 2020

Molecular analyses of in vivo hypoxanthine-guanine phosphoribosyltransferase mutations in human T-lymphocytes: II. Demonstration of a clonal amplification of hprt mutant T-lymphocytes in vivo

1 reference

12 December 2020

An enumerative assay of purine analogue resistant lymphocytes in women heterozygous for the Lesch-Nyhan Mutation.

1 reference

12 December 2020

T-cell cloning to detect the mutant 6-thioguanine-resistant lymphocytes present in human peripheral blood

1 reference

12 December 2020

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.

1 reference

12 December 2020

Mutational specificity in bacteria

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Prediction of protein antigenic determinants from amino acid sequences

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12 December 2020

Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates

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12 December 2020

A simple, rapid method for the purification of poly A+ RNA

1 reference

12 December 2020

Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).

1 reference

12 December 2020

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

1 reference

12 December 2020

Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation.

1 reference

12 December 2020

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

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12 December 2020

Prediction of the Secondary Structure of Proteins from their Amino Acid Sequence

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12 December 2020

Refinement of a T-lymphocyte cloning assay to quantify the in vivo thioguanine-resistant mutant frequency in humans.

1 reference

12 December 2020

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

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12 December 2020

Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome

1 reference

12 December 2020

Alterations of the hprt gene in human in vivo-derived 6-thioguanine-resistant T lymphocytes.

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00276334

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Dimensions Publication ID

30 July 2017

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