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Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis
BACKGROUND: Rett syndrome (RTT) is a developmental disorder with an early onset and X‐linked dominant inheritance pattern. It is first recognized in infancy and is seen almost always in girls, but it may be seen in boys on rare occasions. Typical RTT is caused by de novo mutations of the gene MECP2...
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| Vydáno v: | Mol Genet Genomic Med |
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| Hlavní autoři: | , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2019
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6687651/ https://ncbi.nlm.nih.gov/pubmed/31206249 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.793 |
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