(Q52830301)

8 May 2018

https://api.crossref.org/works/10.1038/310412A0

title

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

1 reference

1 August 2023

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2

P. I. Patel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6087154

1 August 2023

author name string

T. P. Yang

1

1 reference

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1 August 2023

A. C. Chinault

3

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1 August 2023

J. T. Stout

4

1 reference

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1 August 2023

L. G. Jackson

5

1 reference

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1 August 2023

B. M. Hildebrand

6

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1 August 2023

C. T. Caskey

7

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1 August 2023

publication date

1 August 1984

1 reference

8 May 2018

2 August 1984

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6087154

http://www.nature.com/articles/310412a0

1 August 2023

language of work or name

English

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work available at URL

1 reference

https://api.crossref.org/works/10.1038/310412A0

http://www.nature.com/articles/310412a0.pdf

1 August 2023

1 reference

https://api.crossref.org/works/10.1038/310412A0

1 August 2023

1 reference

8 May 2018

volume

310

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8 May 2018

issue

5976

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8 May 2018

page(s)

412-414

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8 May 2018

describes a project that uses

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Deletion and amplification of the HGPRT locus in Chinese hamster cells

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Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes

21 January 2018

1 reference

7 January 2021

The rate of spontaneous mutation of a human gene

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene

1 reference

7 January 2021

The severe form of alpha thalassaemia is caused by a haemoglobin gene deletion

1 reference

7 January 2021

Gene deletion as the cause of α thalassaemia: Genetic lesion in homozygous α thalassaemia (hydrops fetalis)

1 reference

7 January 2021

Characterisation of deletions which affect the expression of fetal globin genes in man

1 reference

7 January 2021

The structure of the human β-globin gene in β-thalassaemia

1 reference

7 January 2021

Cloning and direct examination of a structurally abnormal human beta 0-thalassemia globin gene

1 reference

7 January 2021

Gene deletions in patients with haemophilia B and anti-factor IX antibodies

1 reference

7 January 2021

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster

1 reference

7 January 2021

A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing

1 reference

7 January 2021

beta 0 thalassemia, a nonsense mutation in man

1 reference

7 January 2021

Characterization of a cloned repetitive DNA sequence concentrated on the human X chromosome

1 reference

7 January 2021

Human ribosomal RNA gene spacer sequences are found interspersed elsewhere in the genome

1 reference

7 January 2021

Identifiers

DOI

10.1038/310412A0

1 reference

8 May 2018

Dimensions Publication ID

1020324062

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1 reference

8 May 2018