词条 | Premutation |
释义 |
A premutation is a situation in which there are an excess number of repeats in a gene that is at risk of increasing in length during reproduction but which does not cause disease in the person with the excess number of repeats.[1] Fragile X syndrome is a condition in which premutations may be present in the parents of affected people.[2] References1. ^{{cite book |last1=Gersen |first1=Steven L. |last2=Keagle |first2=Martha B. |title=The Principles of Clinical Cytogenetics |date=2008 |publisher=Springer Science & Business Media |isbn=9781592598335 |page=505 |url=https://books.google.com/books?id=hSDrd9MfSCEC&pg=PA505 |language=en}} 2. ^{{cite web|url=https://ghr.nlm.nih.gov/condition/fragile-x-syndrome|title=fragile X syndrome|date=April 2012|website=Genetics Home Reference|archiveurl=https://web.archive.org/web/20161009162713/https://ghr.nlm.nih.gov/condition/fragile-x-syndrome|archivedate=9 October 2016|deadurl=no|accessdate=7 October 2016|df=}} 1 : Mutation |
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