The CSF1R gene was sequenced in all 48 patients as follows. The entire coding region of CSF1R was PCR-amplified using flanking intronic primers (primer sequences available on request). The PCR product was purified and then sequenced in both directions using Big Dye Terminator V.3.1 Cycle Sequencing Kit (Applied Biosystems). Sequencing products were purified and read on an ABI 3730 DNA Analyzer (Applied Biosystems). Sequences were analysed using Seqscape V.3 software (Applied Biosystems). Variants are described with reference to Ensembl Transcript ENST00000286301 of the CSF1R gene. In silico prediction was performed using Polyphen-211 (link) and Provean.12 (link)
Lynch D.S., Jaunmuktane Z., Sheerin U.M., Phadke R., Brandner S., Milonas I., Dean A., Bajaj N., McNicholas N., Costello D., Cronin S., McGuigan C., Rossor M., Fox N., Murphy E., Chataway J, & Houlden H. (2015). Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series. Journal of Neurology, Neurosurgery, and Psychiatry, 87(5), 512-519.
Corresponding Organization : National Hospital for Neurology and Neurosurgery
Other organizations :
Aristotle University of Thessaloniki, Addenbrooke's Hospital, Queen's Medical Centre, Cork University Hospital, St. Vincent's University Hospital, University College Dublin, UK Dementia Research Institute
Sequencing of the entire coding region of the CSF1R gene
dependent variables
Identification of variants in the CSF1R gene
control variables
Flanking intronic primers used for PCR amplification
Big Dye Terminator V.3.1 Cycle Sequencing Kit (Applied Biosystems) used for sequencing
ABI 3730 DNA Analyzer (Applied Biosystems) used for sequencing product analysis
Seqscape V.3 software (Applied Biosystems) used for sequence analysis
In silico prediction using Polyphen-2 and Provean
Annotations
Based on most similar protocols
Etiam vel ipsum. Morbi facilisis vestibulum nisl. Praesent cursus laoreet felis. Integer adipiscing pretium orci. Nulla facilisi. Quisque posuere bibendum purus. Nulla quam mauris, cursus eget, convallis ac, molestie non, enim. Aliquam congue. Quisque sagittis nonummy sapien. Proin molestie sem vitae urna. Maecenas lorem.
As authors may omit details in methods from publication, our AI will look for missing critical information across the 5 most similar protocols.
About PubCompare
Our mission is to provide scientists with the largest repository of trustworthy protocols and intelligent analytical tools, thereby offering them extensive information to design robust protocols aimed at minimizing the risk of failures.
We believe that the most crucial aspect is to grant scientists access to a wide range of reliable sources and new useful tools that surpass human capabilities.
However, we trust in allowing scientists to determine how to construct their own protocols based on this information, as they are the experts in their field.
Ready to
get started?
Sign up for free.
Registration takes 20 seconds.
Available from any computer
No download required
