Work

Two Novel Missense Mutations (R766M and R792G) in Exon 13 of the CFTR Gene in a Patient with Congenital Bilateral Absence of the Vas deferens

Year: 2000

Type: article

Study design: Case Report

Source: Human Heredity

DOI: 10.1159/000022934

Authors: Metka Ravnik-Glavač, Michael Dean, Damjan Glavač

Institutions: University of Ljubljana, Laboratory of Molecular Genetics, National Institutes of Health, National Cancer Institute

Language: English

Topic: Cystic Fibrosis Research Advances

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2061882722

FWCI: 0.306

Cites: 3

Cited by: 4

Related to: 10