Lanean...
Seven novel genetic variants in a North Indian cohort with classical homocystinuria
Classical homocystinuria is the most common cause of isolated homocystinuria. The variants of the CBS gene remain unidentified in Indian children with this disorder. Based on the hallmark clinical features, family history, and/or biochemical clues for classical homocystinuria, 16 children below the...
Gorde:
| Argitaratua izan da: | Sci Rep |
|---|---|
| Egile Nagusiak: | , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Nature Publishing Group UK
2020
|
| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7560719/ https://ncbi.nlm.nih.gov/pubmed/33057012 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-73475-5 |
| Etiketak: |
Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|