PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1
Biallelic PMS2 mutations are responsible for more than half of all cases of constitutional mismatch repair deficiency (CMMRD), a recessively inherited childhood cancer predisposition syndrome. The mismatch repair gene PMS2 is partly embedded within one copy of an inverted 100-kb low-copy repeat (LCR...
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| Main Authors: | , , , , , , |
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| Formato: | Text |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2016
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| Assuntos: | |
| Acesso em linha: | https://pmc.ncbi.nlm.nih.gov/articles/PMC5110070/ https://pubmed.ncbi.nlm.nih.gov/27329736 http://dx.doi.org/10.1038/ejhg.2016.75 |
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