(Q37369920)

20 August 2017

Evidence for a founder effect of the MPL-S505N mutation in eight Italian pedigrees with hereditary thrombocythemia (English)

1 reference

20 August 2017

0 references

1 reference

Kun Liu

1

1 reference

20 August 2017

Maurizio Martini

2

1 reference

20 August 2017

Bianca Rocca

3

1 reference

20 August 2017

Christopher I Amos

4

1 reference

20 August 2017

Luciana Teofili

5

1 reference

20 August 2017

Fiorina Giona

6

1 reference

20 August 2017

Jianmin Ding

7

1 reference

20 August 2017

Hirokazu Komatsu

8

1 reference

20 August 2017

Luigi M Larocca

9

1 reference

20 August 2017

Radek C Skoda

10

1 reference

20 August 2017

16 July 2009

1 reference

20 August 2017

1 reference

20 August 2017

94

1 reference

20 August 2017

10

1 reference

20 August 2017

1368-1374

1 reference

MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort.

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754952

Phenotypic variations and new mutations in JAK2 V617F-negative polycythemia vera, erythrocytosis, and idiopathic myelofibrosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754952

MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754952

A comparison of several methods for haplotype frequency estimation and haplotype reconstruction for tightly linked markers from general pedigrees

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754952

Lessons from familial myeloproliferative disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754952

Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754952

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754952

Familial essential thrombocythemia associated with one-base deletion in the 5'-untranslated region of the thrombopoietin gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754952

An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754952

A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754952

MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754952

Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754952

Thrombopoietin production is inhibited by a translational mechanism.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2754952

Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene

2 September 2018

1 reference

12 December 2020

Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene

1 reference

12 December 2020

1 reference

12 December 2020

Activating mutations of the transmembrane domain of MPL in vitro and in vivo: incorrect sequence of MPL-K, an alternative spliced form of MPL

1 reference

12 December 2020

The activating splice mutation in intron 3 of the thrombopoietin gene is not found in patients with non-familial essential thrombocythaemia

1 reference

12 December 2020

A single-base deletion in the thrombopoietin (TPO) gene causes familial essential thrombocythemia through a mechanism of more efficient translation of TPO mRNA

1 reference

12 December 2020

Markers of myeloproliferative diseases in childhood polycythemia vera and essential thrombocythemia

1 reference

12 December 2020

Rapid detection of MPL Baltimore using LightCycler technology and melting curve analysis

1 reference

12 December 2020

The worldwide distribution of the VHL 598C&gt;T mutation indicates a single founding event

1 reference

12 December 2020

10.3324/HAEMATOL.2009.005918

Identifiers

DOI

1 reference

20 August 2017

1 reference

20 August 2017

PubMed publication ID

19608689

1 reference