Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

Gitte J. Almind; Jakob Ek; Thomas Rosenberg; Hans Rudolf Lytchoff Eiberg; Michael Larsen; Lucamp Lucamp; Karen Brøndum-Nielsen; K Grønskov

doi:10.1186/1471-2350-13-65

Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

Gitte J. Almind, Jakob Ek, Thomas Rosenberg, Hans Rudolf Lytchoff Eiberg, Michael Larsen, Lucamp Lucamp, Karen Brøndum-Nielsen, K Grønskov

34 Citationer (Scopus)

Abstract

ABSTRACT:

Originalsprog	Engelsk
Tidsskrift	B M C Medical Genetics
Vol/bind	13
Sider (fra-til)	65
ISSN	1471-2350
DOI	https://doi.org/10.1186/1471-2350-13-65
Status	Udgivet - 2012

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10.1186/1471-2350-13-65

Citationsformater

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title = "Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%",

abstract = "ABSTRACT:",

author = "Almind, {Gitte J.} and Jakob Ek and Thomas Rosenberg and Eiberg, {Hans Rudolf Lytchoff} and Michael Larsen and Lucamp Lucamp and Karen Br{\o}ndum-Nielsen and K Gr{\o}nskov",

year = "2012",

doi = "10.1186/1471-2350-13-65",

language = "English",

volume = "13",

pages = "65",

journal = "B M C Medical Genetics",

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TY - JOUR

T1 - Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

AU - Almind, Gitte J.

AU - Ek, Jakob

AU - Rosenberg, Thomas

AU - Eiberg, Hans Rudolf Lytchoff

AU - Larsen, Michael

AU - Lucamp, Lucamp

AU - Brøndum-Nielsen, Karen

AU - Grønskov, K

PY - 2012

Y1 - 2012

N2 - ABSTRACT:

AB - ABSTRACT:

U2 - 10.1186/1471-2350-13-65

DO - 10.1186/1471-2350-13-65

M3 - Journal article

C2 - 22857269

SN - 1471-2350

VL - 13

SP - 65

JO - B M C Medical Genetics

JF - B M C Medical Genetics

ER -

Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

Abstract

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