Work

A novel homozygous nonsense deletion/insertion mutation in the keratin 14 gene (Y248X; 744delC/insAG) causes recessive epidermolysis bullosa simplex type Köbner

Year: 2003

Type: article

Study design: Case Report

Source: Clinical and Experimental Dermatology

DOI: 10.1046/j.1365-2230.2003.01218.x

Authors: C. M. Lanschuetzer, A. Klausegger, G. Pohla-Gubo, R. Hametner, G. Richard, J. Uitto, H. Hintner, J. W. Bauer

Institution: Thomas Jefferson University

Language: English

Topic: Skin and Cellular Biology Research

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2052101532

FWCI: 1.827

Cites: 7

Cited by: 26

Related to: 10