Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. (Q54617217)

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17 January 2020

title

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours (English)

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17 January 2020

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17 January 2020

Valeriano Leite

11

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17 January 2020

Rajesh Thakker

14

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17 January 2020

Michael R Bowl

3

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17 January 2020

author name string

K J Bradley

1

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17 January 2020

B Harding

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17 January 2020

T Cranston

5

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17 January 2020

C Fratter

6

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17 January 2020

G M Besser

7

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17 January 2020

M Conceição Pereira

8

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17 January 2020

M W J Davie

9

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17 January 2020

N Dudley

10

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17 January 2020

G P Sadler

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17 January 2020

A Seller

13

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publication date

1 March 2006

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17 January 2020

published in

Clinical Endocrinology

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17 January 2020

volume

64

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issue

3

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page(s)

299-306

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Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartomas

17 January 2020

cites work

1 reference

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Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q

21 January 2018

1 reference

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Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02460.X

Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02460.X

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02460.X

The parafibromin tumor suppressor protein is part of a human Paf1 complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02460.X

The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02460.X

Somatic and Germ-Line Mutations of theHRPT2Gene in Sporadic Parathyroid Carcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02460.X

HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours

21 January 2018

1 reference

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Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02460.X

Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02460.X

A Novel IVS2-1G>A mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02460.X

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism

21 January 2018

1 reference

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Genomic variants in exons and introns: identifying the splicing spoilers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02460.X

Genetic studies of a family with hereditary hyperparathyroidism-jaw tumour syndrome.

21 January 2018

1 reference

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10.1111/J.1365-2265.2006.02460.X

21 January 2018

Identifiers

DOI

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17 January 2020

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