Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

C Toomes; N Marchbank; David Mackey; Jamie Craig; R Newbury-Ecob; C Bennett; C Vize; S Desai; C Black; Nilesh Patel; M Teimory; A Markham; C Inglehearn; A Churchill

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

C Toomes, N Marchbank, David Mackey, Jamie Craig, R Newbury-Ecob, C Bennett, C Vize, S Desai, C Black, Nilesh Patel, M Teimory, A Markham, C Inglehearn, A Churchill

Research output: Contribution to journal › Article › peer-review

148 Citations (Scopus)

Original language	English
Pages (from-to)	1369-1378
Number of pages	10
Journal	Human Molecular Genetics
Volume	10
Issue number	13
Publication status	Published - 2001

Cite this

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title = "Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy",

author = "C Toomes and N Marchbank and David Mackey and Jamie Craig and R Newbury-Ecob and C Bennett and C Vize and S Desai and C Black and Nilesh Patel and M Teimory and A Markham and C Inglehearn and A Churchill",

year = "2001",

language = "English",

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journal = "Human Molecular Genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

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T1 - Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

AU - Toomes, C

AU - Marchbank, N

AU - Mackey, David

AU - Craig, Jamie

AU - Newbury-Ecob, R

AU - Bennett, C

AU - Vize, C

AU - Desai, S

AU - Black, C

AU - Patel, Nilesh

AU - Teimory, M

AU - Markham, A

AU - Inglehearn, C

AU - Churchill, A

PY - 2001

Y1 - 2001

M3 - Article

SN - 0964-6906

VL - 10

SP - 1369

EP - 1378

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 13

ER -