(Q28284551)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8703016%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

title

Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8703016%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

main subject

Bernard-Soulier syndrome

1 reference

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8703016%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

author name string

L B Ludlow

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8703016%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

B P Schick

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8703016%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

M L Budarf

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8703016%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

D A Driscoll

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8703016%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

E H Zackai

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8703016%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

A Cohen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8703016%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

language of work or name

English

0 references

publication date

1 September 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8703016%20AND%20SRC:MED&resulttype=core&format=json

Journal of Biological Chemistry

17 October 2019

number of pages

5

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8703016%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

volume

271

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8703016%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

issue

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8703016%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

page(s)

22076-22080

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8703016%20AND%20SRC:MED&resulttype=core&format=json

Complementary DNA cloning of the alternatively expressed endothelial cell glycoprotein Ib beta (GPIb beta) and localization of the GPIb beta gene to chromosome 22

17 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

The alpha and beta chains of human platelet glycoprotein Ib are both transmembrane proteins containing a leucine-rich amino acid sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

The Rous sarcoma virus long terminal repeat is a strong promoter when introduced into a variety of eukaryotic cells by DNA-mediated transfection

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

Accurate transcription initiation by RNA polymerase II in a soluble extract from isolated mammalian nuclei

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

Transcription factor GATA-1 regulates human HOXB2 gene expression in erythroid cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

Identification of Essential GATA and Ets Binding Motifs within the Promoter of the Platelet Glycoprotein Ibα Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

Transcriptional regulation of the rat platelet factor 4 gene: interaction between an enhancer/silencer domain and the GATA site

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

An early haematopoietic defect in mice lacking the transcription factor GATA-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

Bernard-Soulier syndrome: diagnosis by an ELISA method using monoclonal antibodies in 2 new unrelated patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I)

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

In vivo expression of a nonselected gene transferred into murine hematopoietic stem cells by electroporation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.271.36.22076

21 January 2018

Identifiers

DOI

10.1074/JBC.271.36.22076

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8703016%20AND%20SRC:MED&resulttype=core&format=json

17 October 2019

1 reference