Work

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

Year: 1999

Type: article

Study design: Observational Study

Source: Human Molecular Genetics

DOI: 10.1093/hmg/8.7.1237

Authors: E. Maestrini, B P Korge, J Ocaña-Sierra, E Calzolari, S Cambiaghi, P M Scudder, A Hovnanian, A P Monaco, C S Munro

Institutions: Centre for Human Genetics, University of Oxford, University of Cologne, Universidad de Granada, University of Ferrara, University of Milan, Southern General Hospital

Language: English

Topic: Connexins and lens biology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Wellcome Trust

OpenAlex ID: W2128747184

FWCI: 7.278

Cites: 51

Cited by: 324

Related to: 10