Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis
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Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare diseaseLoss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular AdhesionsLoss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.The aggregation-prone intracellular serpin SRP-2 fails to transit the ER in Caenorhabditis elegans.Nagashima-type palmoplantar keratosis in a Chinese Han population.Discovery in genetic skin disease: the impact of high throughput genetic technologiesReview of the 94th Annual Meeting of the British Association of Dermatologists, Glasgow 2014.Mal de Meleda: A Focused Review.Palmoplantar keratodermas: clinical and genetic aspects.Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".Heparan sulfate/heparin glycosaminoglycan binding alters inhibitory profile and enhances anticoagulant function of conserved Amblyomma americanum tick saliva serpin 19.Genome-wide association study identifies the SERPINB gene cluster as a susceptibility locus for food allergy.Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis.Insights into gene expression profiles induced by Socs3 depletion in keratinocytes.Novel nonsense mutation in SERPINB7 and the treatment of foot odor in a patient with Nagashima-type palmoplantar keratosis.Three cases of Nagashima-type palmoplantar keratosis associated with atopic dermatitis: A diagnostic pitfall.A sporadic case of Nagashima-type palmoplantar keratosis caused by gene mutation in SERPINB7.Identification of SERPINB7 mutations in Korean patients with Nagashima-type palmoplantar keratosis.Novel frame-shift mutation in SERPINB7 in a Japanese patient with Nagashima-type palmoplantar keratosis.SERPINB7 Expression Predicts Poor Pancreatic Cancer Survival Upon Gemcitabine Treatment
P2860
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P2860
Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis
description
2013 nî lūn-bûn
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2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
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2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
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2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
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name
Mutations in SERPINB7, encodin ...... ma-type palmoplantar keratosis
@ast
Mutations in SERPINB7, encodin ...... ma-type palmoplantar keratosis
@en
Mutations in SERPINB7, encodin ...... ma-type palmoplantar keratosis
@nl
type
label
Mutations in SERPINB7, encodin ...... ma-type palmoplantar keratosis
@ast
Mutations in SERPINB7, encodin ...... ma-type palmoplantar keratosis
@en
Mutations in SERPINB7, encodin ...... ma-type palmoplantar keratosis
@nl
prefLabel
Mutations in SERPINB7, encodin ...... ma-type palmoplantar keratosis
@ast
Mutations in SERPINB7, encodin ...... ma-type palmoplantar keratosis
@en
Mutations in SERPINB7, encodin ...... ma-type palmoplantar keratosis
@nl
P2093
P2860
P50
P3181
P1476
Mutations in SERPINB7, encodin ...... ma-type palmoplantar keratosis
@en
P2093
Aiko Shiohama
Akihiro Umezawa
Akira Ishiko
Atsushi Shimizu
Hideaki Tanizaki
Hironori Niizeki
Hiroshi Kawasaki
Jun-ichi Sakabe
Kazuhiko Nakabayashi
P2860
P304
P3181
P356
10.1016/J.AJHG.2013.09.015
P407
P577
2013-10-24T00:00:00Z