Nagashima-type palmoplantar keratosis in a Chinese Han population. - Test2 - elhamkhani - TriplyDB

Nagashima-type palmoplantar keratosis in a Chinese Han population.

Nagashima-type palmoplantar keratosis in a Chinese Han population.

http://www.wikidata.org/entity/Q37403219

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Nagashima-type palmoplantar keratosis in a Chinese Han population.

http://www.wikidata.org/entity/Q37403219

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article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 21 September 2016

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Nagashima-type palmoplantar keratosis in a Chinese Han population.

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Nagashima-type palmoplantar keratosis in a Chinese Han population.

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Nagashima-type palmoplantar keratosis in a Chinese Han population.

@en

Nagashima-type palmoplantar keratosis in a Chinese Han population.

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Nagashima-type palmoplantar keratosis in a Chinese Han population.

@en

Nagashima-type palmoplantar keratosis in a Chinese Han population.

@nl

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Molecular Medicine Reports

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Nagashima-type palmoplantar keratosis in a Chinese Han population.

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Cheng Ni

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Guolong Zhang

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Jia Zhang

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Jianying Liang

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Ming Li

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Ruhong Cheng

http://www.w3.org/2001/XMLSchema#string

Zhirong Yao

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P2860

Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.

Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency.

Human clade B serpins (ov-serpins) belong to a cohort of evolutionarily dispersed intracellular proteinase inhibitor clades that protect cells from promiscuous proteolysis.

Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA.

Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region

Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis.

Possible involvement of T lymphocytes in the pathogenesis of Nagashima-type keratosis palmoplantaris.

Heterozygous manifestations in female carriers of Mal de Meleda.

"Nagashima-type" keratosis as a novel entity in the palmoplantar keratoderma category.

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4049-4054

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scholarly article

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10.3892/MMR.2016.5757

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5

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14

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2016-09-21T00:00:00Z

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27666198

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5101892

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