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Article

Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.

American journal of human genetics - 4 Aug 2016

Pigors Manuela, Sarig Ofer, Heinz Lisa, Plagnol Vincent, Fischer Judith, Mohamad Janan, Malchin Natalia, Rajpopat Shefali, Kharfi Monia, Lestringant Giles G, Sprecher Eli, Kelsell David P, Blaydon Diana C

Abstract excerpt

SERPINS comprise a large and functionally diverse family of serine protease inhibitors. Here, we report three unrelated families with loss-of-function mutations in SERPINB8 in association with an autosomal-recessive form of exfoliative ichthyosis. Whole-exome sequencing of affected individuals from a consanguineous Tunisian family and a large Israeli family revealed a homozygous frameshift mutation, c.947delA...

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Identifiers

PMID: 27476651
DOI: 10.1016/j.ajhg.2016.06.004
PMCID: PMC4974070

Genes

SERPINB8

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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