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Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing
Congenital cataract is both clinically diverse and genetically heterogeneous. To investigate the underlying genetic defect in three-generations of a Chinese family with autosomal dominant congenital cataracts, we recruited family members who underwent comprehensive ophthalmic examinations. A heteroz...
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| Foilsithe in: | Sci Rep |
|---|---|
| Main Authors: | , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Nature Publishing Group
2017
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5216388/ https://ncbi.nlm.nih.gov/pubmed/28059152 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep40129 |
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