Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Denise R. Allen-Powell"'
Autor:
Denise R. Allen-Powell, Kevin B. Sevior, Yelena Bykhovskaya, Atsushi Hatamochi, Ian Stewart, Nathan Fischel-Ghodsian, Marion A. Maw
Publikováno v:
American Journal of Medical Genetics. 75:179-185
A New Zealand and a Scottish pedigree with maternally inherited sensorineural deafness were both previously shown to carry a heteroplasmic A7445G mutation in the mitochondrial genome. More detailed clinical examination of the New Zealand family showe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e604022ae4e977230c31f7e238d2c251
https://doi.org/10.1002/(sici)1096-8628(19980113)75:2<179::aid-ajmg11>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19980113)75:2<179::aid-ajmg11>3.0.co
Autor:
Mohammed Grati, Pierre Bitoun, Saida Benarab, Stephen A. Wilcox, Christine Petit, Alain Joannard, Amel Boulila-Elgaied, Elie El-Zir, J Godet, Mirna Mustapha, Hans Henrik M. Dahl, Jacqueline Levilliers, Denise R. Allen-Powell, Nicholas Lench, Jacques Loiselet, Anna Middleton, Mark J. Houseman, Hammadi Ayadi, Marion A. Maw, Robert F. Mueller, Catherine Dodé, Amelia H. Osborn, Françoise Denoyelle, Dominique Weil, R. J McKinlay Gardner, Anne Aubois, Geneviève Lina-Granade, Erea Noel Garabedian, Sandrine Marlin
Publikováno v:
Human Molecular Genetics. 6:2173-2177
Prelingual non-syndromic (isolated) deafness is the most frequent hereditary sensory defect. In >80% of the cases, the mode of transmission is autosomal recessive. To date, 14 loci have been identified for the recessive forms (DFNB loci). For two of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b520ebc61e08e77e5a44e9222355385
https://doi.org/10.1093/hmg/6.12.2173
https://doi.org/10.1093/hmg/6.12.2173