Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. (Q34597095)

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14 January 2020

title

Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance (English)

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erythropoietic protoporphyria

14 January 2020

main subject

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inferred from title

author

Mary Felicity Stewart

7

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author name string

S Alexander Holme

1

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14 January 2020

Sharon D Whatley

2

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14 January 2020

Andrew G Roberts

3

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14 January 2020

Alexander V Anstey

4

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14 January 2020

George H Elder

5

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14 January 2020

Russell D Ead

6

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14 January 2020

Peter M Farr

8

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Helen M Lewis

9

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14 January 2020

Nicholas Davies

10

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14 January 2020

Marion I White

11

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14 January 2020

R Simon Ackroyd

12

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14 January 2020

Michael N Badminton

13

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language of work or name

English

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publication date

11 September 2008

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Journal of Investigative Dermatology

14 January 2020

published in

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volume

129

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page(s)

599-605

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issue

3

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https://scigraph.springernature.com/pub.10.1038/jid.2008.272

14 January 2020

exact match

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cites work

The liver in protoporphyria

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

ACP Best Practice No 165: front line tests for the investigation of suspected porphyria

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

Erythropoietic protoporphyria 10 years experience

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

Hepatic porphyrias in children

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

The dominant form of hereditary palmoplantar keratoderma in the northernmost county of Sweden (Norrbotten)

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

Hereditary palmoplantar keratodermas in South India.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

Palmoplantar keratodermas

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

Human Erythropoietic Protoporphyria: Two point mutations in the ferrochelatase gene

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

Liver transplantation for erythropoietic protoporphyria liver disease.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

Erythropoietic protoporphyria: altered phenotype after bone marrow transplantation for myelogenous leukemia in a patient heteroallelic for ferrochelatase gene mutations

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

Molecular characterization of a ferrochelatase gene defect causing anomalous RNA splicing in erythropoietic protoporphyria

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

Recessive inheritance of erythropoietic protoporphyria with liver failure

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

Erythropoietic protoporphyria.

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

Exonic deletions as a cause of erythropoietic protoporphyria

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

The 2.0 A structure of human ferrochelatase, the terminal enzyme of heme biosynthesis

1 reference

https://api.crossref.org/works/10.1038%2FJID.2008.272

7 January 2021

Identifiers

DOI

10.1038/JID.2008.272

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18787536%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

14 January 2020

0 references

1 reference