Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer)
Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer)
We are grateful to the authors for pointing out the errors in assignment of the predicted effect of some of the sequence variants that we reported.1 The same sense mutations Q282Q, C680C, K1724K, and R1808R are incorrectly recorded as protein truncating in table 2. The Y489C and G629R mutations are previously reported splice mutations. The E91X sequence change is 271GT. The D176E and R873C sequence variants should have been recorded only in table 3. We apologise for these errors.
However, this does not detract from the main message of our paper that all of these sequence variants were ascertained using a single method. The reported method is an accurate and efficient way of testing for sequence changes.
neurofibromatosis 1, genes, sequence analysis, dna mutational analysis, analysis, methods, diagnosis, letter, humans
e33
Whittaker, J.L.
75eba6c1-7f7e-4b3f-872f-4ac9765e96f3
Mattocks, C.
d9220649-2064-473f-b004-0895bf9fec97
Baralle, D.
faac16e5-7928-4801-9811-8b3a9ea4bb91
Tarpey, P.
e1d6a030-5081-41b1-945c-c6744749999d
Ffrench-Constant, C.
d9c008e9-ae0f-4664-adcd-c32abf95381d
Bobrow, M.
dd69aef7-6b9e-4f90-b2b5-611d7f57c2cd
2005
Whittaker, J.L.
75eba6c1-7f7e-4b3f-872f-4ac9765e96f3
Mattocks, C.
d9220649-2064-473f-b004-0895bf9fec97
Baralle, D.
faac16e5-7928-4801-9811-8b3a9ea4bb91
Tarpey, P.
e1d6a030-5081-41b1-945c-c6744749999d
Ffrench-Constant, C.
d9c008e9-ae0f-4664-adcd-c32abf95381d
Bobrow, M.
dd69aef7-6b9e-4f90-b2b5-611d7f57c2cd
Whittaker, J.L., Mattocks, C., Baralle, D., Tarpey, P., Ffrench-Constant, C. and Bobrow, M.
(2005)
Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer).
Journal of Medical Genetics, 42 (6), .
Abstract
We are grateful to the authors for pointing out the errors in assignment of the predicted effect of some of the sequence variants that we reported.1 The same sense mutations Q282Q, C680C, K1724K, and R1808R are incorrectly recorded as protein truncating in table 2. The Y489C and G629R mutations are previously reported splice mutations. The E91X sequence change is 271GT. The D176E and R873C sequence variants should have been recorded only in table 3. We apologise for these errors.
However, this does not detract from the main message of our paper that all of these sequence variants were ascertained using a single method. The reported method is an accurate and efficient way of testing for sequence changes.
This record has no associated files available for download.
More information
Published date: 2005
Keywords:
neurofibromatosis 1, genes, sequence analysis, dna mutational analysis, analysis, methods, diagnosis, letter, humans
Identifiers
Local EPrints ID: 60422
URI: http://eprints.soton.ac.uk/id/eprint/60422
ISSN: 0022-2593
PURE UUID: 03cfd86d-9d8d-4bb0-b2b0-9b6f6a2c679b
Catalogue record
Date deposited: 04 Sep 2008
Last modified: 09 Jan 2022 03:27
Export record
Contributors
Author:
J.L. Whittaker
Author:
C. Mattocks
Author:
P. Tarpey
Author:
C. Ffrench-Constant
Author:
M. Bobrow
Download statistics
Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.
View more statistics
