Search Results - "Sarduy, Maritza"

The A1555G Mutation in the 12S rRNA Gene of Human mtDNA: Recurrent Origins and Founder Events in Families Affected by Sensorineural Deafness by Torroni, Antonio, Cruciani, Fulvio, Rengo, Chiara, Sellitto, Daniele, López-Bigas, Núria, Rabionet, Raquel, Govea, Nancy, López de Munain, Adolfo, Sarduy, Maritza, Romero, Lourdes, Villamar, Manuela, del Castillo, Ignacio, Moreno, Felipe, Estivill, Xavier, Scozzari, Rosaria

“…The mtDNA variation of 50 Spanish and 4 Cuban families affected by nonsyndromic sensorineural deafness due to the A1555G mutation in the 12S rRNA gene was…”
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A Novel Locus for Non-syndromic Sensorineural Deafness (DFN6) Maps to Chromosome Xp22 by del Castillo, Ignacio, Villamar, Manuela, Sarduy, Maritza, Romero, Lourdes, Herraiz, Carlos, Javier Hernández, F., Rodríguez, Mariano, Borrás, Isabel, Montero, Ángeles, Bellón, Joaquín, Cruz Tapia, M., Moreno, Felipe

“…Non-syndromic X-linked deafness is highly heterogeneous. At least five different clinical forms have been described, but only two loci have been mapped. Here…”
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