Yüklüyor......
Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family
Anophthalmia is a rare eye development anomaly resulting in absent ocular globes or tissue in the orbit since birth. Here, we investigated a newborn with bilateral anophthalmia in a Chinese family. Exome sequencing revealed that compound heterozygous mutations c.287G > A (p.(Arg96His)) and c.709G...
Kaydedildi:
| Yayımlandı: | Genet Mol Biol |
|---|---|
| Asıl Yazarlar: | , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Sociedade Brasileira de Genética
2017
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5488456/ https://ncbi.nlm.nih.gov/pubmed/28590501 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2016-0120 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|