A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy

E. Cardaioli; G. N. Gallus; P. Da Pozzo; A. Rufa; R. Franceschini; E. Motolese; Aldo Caporossi; M. T. Dotti; A. Federico

doi:10.1007/s00415-005-0057-z

A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy

E. Cardaioli
, G. N. Gallus
, P. Da Pozzo
, A. Rufa
, R. Franceschini
, E. Motolese
, Aldo Caporossi
, M. T. Dotti
, A. Federico

Università Cattolica del Sacro Cuore

University of Siena

Risultato della ricerca: Contributo in rivista › Articolo

3 Citazioni (Scopus)

Abstract

[No abstract available]

Lingua originale	Inglese
pagine (da-a)	672-673
Numero di pagine	2
Rivista	Journal of Neurology
Volume	253
DOI	https://doi.org/10.1007/s00415-005-0057-z
Stato di pubblicazione	Pubblicato - 2006

Keywords

Adult
Arginine
Codon, Nonsense
DNA Mutational Analysis
Exons
Family Health
Female
GTP Phosphohydrolases
Humans
Male
Mutation
Neurology
Neurology (clinical)
Optic Atrophy, Autosomal Dominant

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10.1007/s00415-005-0057-z

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title = "A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy",

abstract = "[No abstract available]",

keywords = "Adult, Arginine, Codon, Nonsense, DNA Mutational Analysis, Exons, Family Health, Female, GTP Phosphohydrolases, Humans, Male, Mutation, Neurology, Neurology (clinical), Optic Atrophy, Autosomal Dominant, Adult, Arginine, Codon, Nonsense, DNA Mutational Analysis, Exons, Family Health, Female, GTP Phosphohydrolases, Humans, Male, Mutation, Neurology, Neurology (clinical), Optic Atrophy, Autosomal Dominant",

author = "E. Cardaioli and Gallus, \{G. N.\} and \{Da Pozzo\}, P. and A. Rufa and R. Franceschini and E. Motolese and Aldo Caporossi and Dotti, \{M. T.\} and A. Federico",

year = "2006",

doi = "10.1007/s00415-005-0057-z",

language = "English",

volume = "253",

pages = "672--673",

journal = "Journal of Neurology",

issn = "0340-5354",

publisher = "Springer Science and Business Media Deutschland GmbH",

}

TY - JOUR

T1 - A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy

AU - Cardaioli, E.

AU - Gallus, G. N.

AU - Da Pozzo, P.

AU - Rufa, A.

AU - Franceschini, R.

AU - Motolese, E.

AU - Caporossi, Aldo

AU - Dotti, M. T.

AU - Federico, A.

PY - 2006

Y1 - 2006

N2 - [No abstract available]

AB - [No abstract available]

KW - Adult

KW - Arginine

KW - Codon, Nonsense

KW - DNA Mutational Analysis

KW - Exons

KW - Family Health

KW - Female

KW - GTP Phosphohydrolases

KW - Humans

KW - Male

KW - Mutation

KW - Neurology

KW - Neurology (clinical)

KW - Optic Atrophy, Autosomal Dominant

KW - Adult

KW - Arginine

KW - Codon, Nonsense

KW - DNA Mutational Analysis

KW - Exons

KW - Family Health

KW - Female

KW - GTP Phosphohydrolases

KW - Humans

KW - Male

KW - Mutation

KW - Neurology

KW - Neurology (clinical)

KW - Optic Atrophy, Autosomal Dominant

UR - http://hdl.handle.net/10807/125484

U2 - 10.1007/s00415-005-0057-z

DO - 10.1007/s00415-005-0057-z

M3 - Article

SN - 0340-5354

VL - 253

SP - 672

EP - 673

JO - Journal of Neurology

JF - Journal of Neurology

ER -

A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy

Abstract

Keywords

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