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De novo mutations in PURA are associated with hypotonia and developmental delay
PURA is the leading candidate gene responsible for the developmental phenotype in the 5q31.3 microdeletion syndrome. De novo mutations in PURA were recently reported in 15 individuals with developmental features similar to the 5q31.3 microdeletion syndrome. Here we describe six unrelated children wh...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Cold Spring Harb Mol Case Stud |
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| Prif Awduron: | , , , , , , , , , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Cold Spring Harbor Laboratory Press
2015
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4850890/ https://ncbi.nlm.nih.gov/pubmed/27148565 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a000356 |
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