(Q35232427)

7 August 2017

title

Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation (English)

1 reference

7 August 2017

B. R. Migeon

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5092480

15 April 2023

language of work or name

English

0 references

publication date

1 March 1971

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5092480/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5092480

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5092480/?tool=EBI

15 April 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5092480

https://europepmc.org/articles/PMC1706686

15 April 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5092480

https://europepmc.org/articles/PMC1706686?pdf=render

15 April 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5092480

American Journal of Human Genetics

15 April 2023

published in

1 reference

7 August 2017

volume

23

1 reference

7 August 2017

issue

2

1 reference

7 August 2017

page(s)

199-210

1 reference

DISTRIBUTION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE ELECTROPHORETIC VARIANTS IN DIFFERENT TISSUES OF HETEROZYGOTES

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1706686

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1706686

DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1706686

Gene action in the X-chromosome of the mouse (Mus musculus L.)

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1706686

Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1706686

Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1706686

Purine requirement of cells cultured from humans affected with Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyltransferase deficiency).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1706686

Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1706686

Hurler's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1706686

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1706686

SELECTION IN MAMMALIAN MOSAIC CELL POPULATIONS

13 July 2018

1 reference

12 December 2020

GENETIC TESTS WITH A SEX-LINKED MARKER: GLUCOSE-6-PHOSPHATE DEHYDROGENASE

1 reference

12 December 2020

HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES

1 reference

12 December 2020

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Detection of heterozygotes by selective medium

1 reference

12 December 2020

Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria

1 reference

12 December 2020

Mammalian X-chromosome action: inactivation limited in spread and region of origin

1 reference

12 December 2020

Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency

1 reference

12 December 2020

Identifiers

PMC publication ID

1706686

1 reference

7 August 2017

1 reference