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

C Toomes; NJ Marchbank; DA Mackey; JE Craig; RA Newbury-Ecob; CP Bennett; CJ Vize; SP Desai; GCM Black; N Patel; M Teimory; AF Markham; CF Inglehearn; AJ Churchill

doi:10.1093/hmg/10.13.1369

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

C Toomes, NJ Marchbank, DA Mackey, JE Craig, RA Newbury-Ecob, CP Bennett, CJ Vize, SP Desai, GCM Black, N Patel, M Teimory, AF Markham, CF Inglehearn, AJ Churchill

Bristol Medical School (THS)

Research output: Contribution to journal › Article (Academic Journal) › peer-review

148 Citations (Scopus)

Translated title of the contribution	Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
Original language	English
Pages (from-to)	1369 - 1378
Number of pages	10
Journal	Human Molecular Genetics
Volume	10 (13)
DOIs	https://doi.org/10.1093/hmg/10.13.1369
Publication status	Published - Oct 2001

Bibliographical note

Publisher: Oxford University Press

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10.1093/hmg/10.13.1369

http://hmg.oxfordjournals.org/cgi/content/abstract/10/13/1369

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Cite this

@article{c41bb467e7944057b003751692704614,

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

author = "C Toomes and NJ Marchbank and DA Mackey and JE Craig and RA Newbury-Ecob and CP Bennett and CJ Vize and SP Desai and GCM Black and N Patel and M Teimory and AF Markham and CF Inglehearn and AJ Churchill",

note = "Publisher: Oxford University Press",

year = "2001",

month = oct,

doi = "10.1093/hmg/10.13.1369",

language = "English",

volume = "10 (13)",

pages = "1369 -- 1378",

journal = "Human Molecular Genetics",

issn = "1460-2083",

publisher = "Oxford University Press",

}

TY - JOUR

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

AU - Toomes, C

AU - Marchbank, NJ

AU - Mackey, DA

AU - Craig, JE

AU - Newbury-Ecob, RA

AU - Bennett, CP

AU - Vize, CJ

AU - Desai, SP

AU - Black, GCM

AU - Patel, N

AU - Teimory, M

AU - Markham, AF

AU - Inglehearn, CF

AU - Churchill, AJ

N1 - Publisher: Oxford University Press

PY - 2001/10

Y1 - 2001/10

U2 - 10.1093/hmg/10.13.1369

DO - 10.1093/hmg/10.13.1369

M3 - Article (Academic Journal)

SN - 1460-2083

VL - 10 (13)

SP - 1369

EP - 1378

JO - Human Molecular Genetics

JF - Human Molecular Genetics

ER -