(Q72131311)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705839%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705839%20AND%20SRC:MED&resulttype=core&format=json

X-linked sideroblastic anemia

24 October 2019

main subject

1 reference

E Prades

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705839%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

C Chambon

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705839%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

T A Dailey

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705839%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

H A Dailey

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705839%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

J Brière

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705839%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

B Grandchamp

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705839%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

publication date

1 April 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705839%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705839%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

volume

95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705839%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705839%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

page(s)

424-428

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705839%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00208968

24 October 2019

exact match

0 references

cites work

Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency

1 reference

12 December 2020

Hereditary iron-loading anemia with secondary hemochromatosis

1 reference

12 December 2020

Human erythroid 5-aminolevulinate synthase. Gene structure and species-specific differences in alternative RNA splicing

1 reference

12 December 2020

Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome

1 reference

12 December 2020

Demonstration of non-functional beta-globin mRNA in homozygous beta (0) thalassemia

1 reference

12 December 2020

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support.

1 reference

12 December 2020

Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes

1 reference

12 December 2020

Human erythroid 5-aminolevulinate synthase: promoter analysis and identification of an iron-responsive element in the mRNA

1 reference

12 December 2020

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

1 reference

12 December 2020

Iron overload in mild sideroblastic anaemias

1 reference

12 December 2020

Nucleotide sequence of mouse 5-aminolevulinic acid synthase cDNA and expression of its gene in hepatic and erythroid tissues

1 reference

12 December 2020

delta-Aminolevulinic acid synthetase in erythroblasts of patients with pyridoxine-responsive anemia. Hypercatabolism caused by the increased susceptibility to the controlling protease

1 reference

12 December 2020

X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase

1 reference

12 December 2020

Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations

1 reference

12 December 2020

Expression of mammalian 5-aminolevulinate synthase in Escherichia coli. Overproduction, purification, and characterization

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00208968

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7705839%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference