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Article

Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay.

The British journal of dermatology - 1 Nov 2011

Refke M, Pasternack S M, Fiebig B, Wenzel S, Ishorst N, Ludwig M, Nöthen M M, Seyger M M, Hamel B C, Betz R C

Abstract excerpt

BACKGROUND: Congenital atrichia is a rare autosomal recessive form of isolated alopecia which is caused by mutations in the human hairless (HR) gene. Patients are born with normal hair that is shed almost completely and irreversibly during the first weeks of life. OBJECTIVES: To investigate the molecular genetic basis of congenital atrichia in two patients, and to analyse the functional consequences of one newly...

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Identifiers

PMID: 21718278
DOI: 10.1111/j.1365-2133.2011.10495.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay.PMID 21718278Read ↗

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