A Novel GJB2 (Connexin 26) Mutation, F142L, in a Patient with Unusual Mucocutaneous Findings and Deafness

Subjects

Subjects :

0303 health sciences
medicine.medical_specialty
Pathology
business.industry
Hearing loss
030305 genetics & heredity
Mucocutaneous zone
Connexin
Cell Biology
Dermatology
Audiology
Biochemistry
03 medical and health sciences
Mutation (genetic algorithm)
Medicine
Missense mutation
medicine.symptom
business
Molecular Biology
030304 developmental biology

Details

Language :

English

ISSN :

0022202X

Issue :

5

Database :

OpenAIRE

Journal :

Journal of Investigative Dermatology

Accession number :

edsair.doi.dedup.....3cab4c73481126ca12f5c951e607a5a9

Full Text :

https://doi.org/10.1046/j.1523-1747.2003.12550_4.x