Sequence analysis of Hungarian LHON patients not carrying the common primary mutations.
J Inherit Metab Dis
; 25(4): 323-4, 2002 Aug.
Article
em En
| MEDLINE
| ID: mdl-12227465
ABSTRACT
We describe sequence analysis of the mitochondrial DNA of five Hungarian patients diagnosed with probable LHON, who do not carry any of the three primary point mutations. We report three novel mutations, one of which might have a pathogenic role.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Mutação Puntual
/
Atrofia Óptica Hereditária de Leber
Limite:
Humans
País/Região como assunto:
Europa
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article