ORIGIN, FREQUENCY AND PATHOGENICITY OF THE MITOCHONDRIAL DNA MUTATIONS ASSOCIATED WITH LEBER’S HEREDITARY OPTIC NEUROPATHY IN ITALIAN PATIENTS AND CONTROLS. A PHYLOGENETIC ANALYSIS
- 2 Anni 1994/1996
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Pubblicazioni Scientifiche
- 1997 AMERICAN JOURNAL OF HUMAN GENETICS
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
- 1995 AMERICAN JOURNAL OF HUMAN GENETICS
ABOUT THE ASIAN-SPECIFIC 9-BP DELETION OF MTDNA
- 1998 AMERICAN JOURNAL OF HUMAN GENETICS
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides
- 1996 AMERICAN JOURNAL OF HUMAN GENETICS
Detection of the mtDNA 14484 mutation on an African-specific haplotype: Implications about its role in causing leber hereditary optic neuropathy
