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

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Melancon SB

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Skopek TR

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Recio L

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Simpson D

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Ogier H

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O'Neill JP

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Falta MT

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Nicklas JA

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Albertini RJ

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1 June 1990

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

30 July 2017

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12 December 2020

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

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A simple method for displaying the hydropathic character of a protein

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

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12 December 2020

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

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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.

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12 December 2020

Genetic analysis of human hypoxanthine-guanine phosphoribosyltransferase deficiency

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12 December 2020

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

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12 December 2020

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

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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

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12 December 2020

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

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

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

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Mutational specificity in bacteria

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

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

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

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

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

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12 December 2020

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

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12 December 2020

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

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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.

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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

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12 December 2020

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

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12 December 2020

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

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Identifiers

DOI

10.1007/BF00276334

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Dimensions Publication ID

30 July 2017

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