Guidelines and recommendations for testing of CX26 mutations and interpretation of results

作者: Manuela Mazzoli , Alessandra Murgia , Maria Bitner , Paulo Gasparini , Andrew Read

DOI: 10.1080/16513860410017359

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参考文章(2)
MAZZOLI M, GUY VAN CAMP, VALERIE NEWTON, GIARBINI N, DECLAU F, AGNETE PARVING, Recommendations for the Description of Genetic and Audiological Data for Families with Nonsyndromic Hereditary Hearing Impairment Audiological Medicine. ,vol. 1, pp. 148- 150 ,(2003) , 10.1080/16513860301713
K Cryns, E Orzan, Alessandra Murgia, PLM Huygen, F Moreno, I Del Castillo, G Parker Chamberlin, H Azaiez, S Prasad, RA Cucci, E Leonardi, RL Snoeckx, PJ Govaerts, PH Van de Heyning, CM Van de Heyning, RJH Smith, G Van Camp, A genotype-phenotype correlation for GJB2 (connexin 26) deafness. Journal of Medical Genetics. ,vol. 41, pp. 147- 154 ,(2004) , 10.1136/JMG.2003.013896