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A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy
We report the case of a 22-year-old male with autosomal recessive Alport syndrome. Molecular analysis showed that this patient has a homozygous missense (NM_000091.4:c.3266G>A) Gly1089Asp mutation in the COL4A3 gene. The proband inherited the mutation from his heterozygous carrier mother, whereas...
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| Veröffentlicht in: | Hum Genome Var |
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| Hauptverfasser: | , , , , , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Publishing Group
2014
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4785521/ https://ncbi.nlm.nih.gov/pubmed/27081500 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2014.6 |
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