Work

A novel splice‐site mutation in ECM‐1 gene in a consanguineous family with lipoid proteinosis

Year: 2005

Type: article

Study design: Case Report

Source: Experimental Dermatology

DOI: 10.1111/j.1600-0625.2005.00374.x

Authors: Liran Horev, Tamara Potikha, Sharon Ayalon, Vered Molho‐Pessach, Arieh Ingber, Mohamad Abdel Gany, Basel Sad Edin, Benjamin Glaser, Abraham Zlotogorski

Institutions: Hadassah Medical Center, Hebrew University of Jerusalem, Clalit Health Services

Language: English

Topic: Genetic and rare skin diseases.

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Hebrew University of Jerusalem

OpenAlex ID: W1987719386

FWCI: 0.722

Cites: 21

Cited by: 24

Related to: 10