Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome. (Q48140559)

9 February 2018

title

Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome. (English)

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9 February 2018

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S Marcus

1

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9 February 2018

D Hellgren

2

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9 February 2018

B Lambert

3

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9 February 2018

S P Fällström

4

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9 February 2018

J Wahlström

5

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9 February 2018

publication date

1 January 1993

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9 February 2018

published in

Human Genetics

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9 February 2018

volume

90

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9 February 2018

issue

5

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9 February 2018

page(s)

477-482

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9 February 2018

https://scigraph.springernature.com/pub.10.1007/bf00217444

exact match

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cites work

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

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12 December 2020

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

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12 December 2020

Detection of somatic DNA recombination in the transgenic mouse brain.

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12 December 2020

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

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12 December 2020

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

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12 December 2020

Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

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12 December 2020

Fine structure of the human hypoxanthine phosphoribosyltransferase gene

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12 December 2020

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

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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

Rapid transfer of DNA from agarose gels to nylon membranes

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12 December 2020

Automated DNA sequencing of the human HPRT locus

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12 December 2020

Mutations causing defective splicing in the human hprt gene

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12 December 2020

Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement

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12 December 2020

Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects

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12 December 2020

Nucleotide sequence analysis of human hypoxanthine phosphoribosyltransferase (HPRT) gene deletions

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12 December 2020

Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency

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12 December 2020

Expression of human and Chinese hamster hypoxanthine-guanine phosphoribosyltransferase cDNA recombinants in cultured Lesch-Nyhan and Chinese hamster fibroblasts

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12 December 2020

Molecular structure and genetic stability of human hypoxanthine phosphoribosyltransferase (HPRT) gene duplications

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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

Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements

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12 December 2020

Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints.

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12 December 2020

Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia.

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12 December 2020

Expression of the hypoxanthine phosphoribosyl transferase gene in resting and growth-stimulated human lymphocytes

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12 December 2020

Identifiers

DOI

10.1007/BF00217444

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9 February 2018

PubMed ID

8381385

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9 February 2018