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Molecular investigation of pediatric portuguese patients with sensorineural hea...
Nogueira, C.; Coutinho, M.; Pereira, C.; Tessa, A.; Santorelli, F.M.; Vilarinho, L.The understanding of the molecular genetics in sensorineural hearing loss (SNHL) has advanced rapidly during the last decade, but the molecular etiology of hearing impairment in the Portuguese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we analyzed the whole mitochondrial genome in 95 unrelated children with SNHL (53 nonsyndromic and 42 syn...
Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial...
PEREIRA, C.; NOGUEIRA, C.; BARBOT, C.; TESSA, A.; SOARES, C.; FATTORI, F.; GUIMARÃES, A.; SANTORELLI, F.M.; VILARINHO, L.Biochem Biophys Res Commun. 2007 Mar 23;354(4):937-41. Epub 2007 Jan 23. Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy. Pereira C, Nogueira C, Barbot C, Tessa A, Soares C, Fattori F, Guimarães A, Santorelli FM, Vilarinho L. Instituto de Genética Médica Jacinto de Magalhães, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal. Abstract We report a novel 14724G...
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