Journal of medical genetics, 2005-07, Vol.42 (7), p.588-594
- 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
2005
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- Autor(en) / Beteiligte
- 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
- Titel
- 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
- Ist Teil von
- Journal of medical genetics, 2005-07, Vol.42 (7), p.588-594
- Ort / Verlag
- England: BMJ Publishing Group Ltd
- Erscheinungsjahr
- 2005
- Quelle
- MEDLINE
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0022-2593, 1468-6244eISSN: 1468-6244DOI: 10.1136/jmg.2004.028324Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1736094
- Format
- –
- Schlagworte
- ARNSHI, Australia - epidemiology, autosomal recessive non-syndromic hearing impairment, Base Sequence - genetics, Belgium - epidemiology, Brazil - epidemiology, Connexin 26, Connexin 30, Connexins - genetics, Deafness, DFNB1, DNA Mutational Analysis, Founder Effect, France - epidemiology, Gene Frequency, Genes, Haplotypes, hearing impairment, Hearing loss, Hearing Loss - epidemiology, Hearing Loss - genetics, Humans, Israel - epidemiology, Italy - epidemiology, Letter to JMG, Mutation, Sequence Deletion, Spain - epidemiology, United Kingdom - epidemiology, United States - epidemiology