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Intellectual disability associated with a homozygous missense mutation in THOC6
BACKGROUND: We recently described a novel autosomal recessive neurodevelopmental disorder with intellectual disability in four patients from two related Hutterite families. Identity-by-descent mapping localized the gene to a 5.1 Mb region at chromosome 16p13.3 containing more than 170 known or predi...
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| Asıl Yazarlar: | , , , , , , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BioMed Central
2013
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3644499/ https://ncbi.nlm.nih.gov/pubmed/23621916 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-62 |
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