1.
Int J Audiol
; 46(7): 384-7, 2007 Jul.
Artículo
en Inglés
| MEDLINE
| ID: mdl-17680470
RESUMEN
The aim of the study is to understand the implications of disclosing the results of connexin26 (Cx26) gene testing to the concerned family with hearing impaired individuals. The department of biotechnology is funding a multicentric multidisciplinary team from Jawaharlal Nehru Center for Advanced Scientific Research (Bangalore), AYJNIHH (Mumbai), PGIBMS (Chennai), and MAMC (New Delhi) to profile mutations of deafness genes in India. Under this program, blood samples were taken from various centers and were sent to JNCASR for genetic analysis (screening for Cx26 mutations). This case study is an attempt to bring out issues encountered when disclosing the implications of genetic diagnosis to the concerned family.
Asunto(s)
Conexinas/genética , Sordera/genética , Revelación , Familia , Mutación Puntual/genética , Adulto , Conexina 26 , Humanos , Masculino , Linaje
2.
J Med Genet
; 40(5): e68, 2003 May.
Artículo
en Inglés
| MEDLINE
| ID: mdl-12746422