(Q35196558)

7 August 2017

title

X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671320

X-linked sideroblastic anemia

25 October 2022

main subject

1 reference

W. H. Raskind

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671320

25 October 2022

E. Wijsman

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671320

25 October 2022

R. A. Pagon

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671320

25 October 2022

T. C. Cox

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671320

25 October 2022

M. J. Bawden

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671320

25 October 2022

B. K. May

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671320

25 October 2022

T. D. Bird

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671320

25 October 2022

language of work or name

English

0 references

publication date

1 February 1991

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1671320/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671320

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1671320/pdf/?tool=EBI

25 October 2022

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%3A1671320

https://europepmc.org/articles/PMC1683027

25 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1671320

https://europepmc.org/articles/PMC1683027?pdf=render

25 October 2022

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%3A1671320

American Journal of Human Genetics

25 October 2022

published in

1 reference

7 August 2017

volume

48

1 reference

7 August 2017

issue

2

1 reference

7 August 2017

page(s)

335-341

1 reference

7 August 2017

cites work

Sideroblastic anaemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683027

Hereditary sideroblastic anaemia in 4 siblings of a Libyan family--autosomal inheritance

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683027

Evidence for a multistep pathogenesis of a myelodysplastic 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=1683027

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683027

Classification of the hereditary ataxias and paraplegias

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683027

Human-tumor-derived cell lines contain common and different transforming genes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683027

Hereditary, X-linked, sideroachrestic anemia. The isolation of two erythrocyte populations differing in Xga blood type and porphyrin content

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683027

Hereditary sideroblastic anaemia and ataxia: an X linked recessive disorder

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683027

Sex-linked recessive congenital ataxia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683027

Etiological heterogeneity in X-linked spastic paraplegia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683027

Report of the committee on the genetic constitution of the X chromosome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683027

Clonal analysis of childhood acute lymphoblastic leukemia with "cytogenetically independent" cell 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=1683027

Complicated hereditary spastic paraparesis with cerebral white matter lesions

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683027

The major human erythroid DNA-binding protein (GF-1): primary sequence and localization of the gene to the X chromosome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683027

Erythroid 5-aminolevulinate synthase is located on the X chromosome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683027

Sideroblasts, Siderocytes, and Sideroblastic Anemia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683027

A computer program for linkage analysis of general human pedigrees

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683027

A spinocerebellar degeneration with X-linked inheritance

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683027

On the Xq13 breakpoint: clinical and cytogenetic observations in a patient with acute myelogenous leukemia.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683027

Isodicentric X chromosomes involving the Xq13 breakpoint in myelodysplasia and acute nonlymphocytic leukemia

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683027

X-linked recessive inheritance of ataxia and adult-onset dementia: clinical features and preliminary linkage analysis

26 September 2018

1 reference

12 December 2020

X-linked spastic paraplegia: evidence for homogeneity with a variable phenotype

1 reference

12 December 2020

Mapping of mutation causing Friedreich's ataxia to human chromosome 9

1 reference

12 December 2020

Twenty-six patients with hematologic disorders and X chromosome abnormalities. Frequent idic(X)(q13) chromosomes and Xq13 anomalies associated with pathologic ringed sideroblasts

1 reference

12 December 2020

Clonal analysis using recombinant DNA probes from the X-chromosome

1 reference

12 December 2020

Report of the Committee on Methods of Linkage Analysis and Reporting

1 reference

12 December 2020

Cytogenetic studies in 174 consecutive patients with preleukemic or myelodysplastic syndromes

1 reference

12 December 2020

Aminolevulinic acid synthetase activity in erythroblasts of patients with primary sideroblastic anemia

1 reference

12 December 2020

Identifiers

PMC publication ID

1683027

1 reference

7 August 2017

1 reference