Mutations in the C-terminus of CDKL5: proceed with caution
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چکیده
منابع مشابه
Wikipedia: proceed with caution.
Despite the study's strengths, a minor obstacle in the methodology should be noted. Hasty et al 9 point out that a reporting bias by the reviewers may have caused a discrepancy in dissimilar assertions that failed to show discordance. What 1 reviewer counted as an assertion, another might not have, and thus this was purely left to the subjec-tivity of the reviewer. Different results might have ...
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It was with great interest that we read the report by Martínez et al. [1] entitled “CDKL5 in different atypical Rett syndrome variants: Description of the first eight patients from Spain”, and in particular of a late C-terminal missense mutation in CDKL5. The mutation described, p.Pro976Leu (c.2927C>T) was identified in a female patient with Rett syndrome (RTT) with regression of late onset. Th...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2013
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2013.133