A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

• Published in: Journal of medical genetics Vol. 42; no. 7; pp. 588 - 594
• Main Authors: del Castillo, F J, Rodríguez-Ballesteros, M, Álvarez, A, Hutchin, T, Leonardi, E, de Oliveira, C A, Azaiez, H, Brownstein, Z, Avenarius, M R, Marlin, S, Pandya, A, Shahin, H, Siemering, K R, Weil, D, Wuyts, W, Aguirre, L A, Martín, Y, Moreno-Pelayo, M A, Villamar, M, Avraham, K B, Dahl, H-H M, Kanaan, M, Nance, W E, Petit, C, Smith, R J H, Van Camp, G, Sartorato, E L, Murgia, A, Moreno, F, del Castillo, I
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 01.07.2005; BMJ Publishing Group LTD; BMJ Publishing Group; BMJ Group
• Subjects: ARNSHI; Australia; Australia - epidemiology; autosomal recessive non-syndromic hearing impairment; Base Sequence; Base Sequence - genetics; Belgium; Belgium - epidemiology; Brazil; Brazil - epidemiology; Connexin 26; Connexin 30; Connexins; Connexins - genetics; Deafness; DFNB1; DNA Mutational Analysis; Founder Effect; France; France - epidemiology; Gene Frequency; Genes; Genetics; Haplotypes; hearing impairment; Hearing Loss; Hearing Loss - epidemiology; Hearing Loss - genetics; Human genetics; Human health and pathology; Humans; Israel; Israel - epidemiology; Italy; Italy - epidemiology; Letter to JMG; Life Sciences; Mutation; Neurons and Cognition; Sensory Organs; Sequence Deletion; Spain; Spain - epidemiology; United Kingdom; United Kingdom - epidemiology; United States; United States - epidemiology; United Kingdom > UK; Belgium; United States > US; Brazil; Italy; Israel; Australia; France; Spain
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.2004.028324