Lanean...
An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene
We characterize a large Italian family presenting with Marfan syndrome (MFS), where the same NM_000138.4:c.6872‐1G > T splice site mutation in the FBN1 gene was detected in 37 affected individuals with different pathological phenotypes. Further studies on such a large pedigree could identify othe...
Gorde:
| Argitaratua izan da: | Clin Case Rep |
|---|---|
| Egile Nagusiak: | , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
John Wiley and Sons Inc.
2020
|
| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7455403/ https://ncbi.nlm.nih.gov/pubmed/32884772 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.2881 |
| Etiketak: |
Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|