A novel disease-causing NF1 variant in a Croatian family with neurofibromatosis type 1
Neurofibromatosis type 1 (NF1) is the most common autosomal dominant neurocutaneous syndrome with the estimated prevalence ranging from 1 in 3000 to 1 in 4000 individuals and wide phenotypical variability. NF1 is caused by autosomal dominant heterozygous mutations in the neurofibromin gene which is...
| Permalink: | http://skupni.nsk.hr/Record/nsk.NSK01001079620 |
|---|---|
| Matična publikacija: |
Molecular and experimental biology in medicine 2 (2019), 2 ; str. 21-27 |
| Glavni autori: | Gotovac Jerčić, Kristina (Author), Žigman, Tamara, Delin, Sanja, liječnica, Krakar, Goran, Đuranović, Vlasta, Borovečki, Fran |
| Vrsta građe: | e-članak |
| Jezik: | eng |
| Predmet: | |
| Online pristup: |
https://doi.org/10.33602/mebm.2.2.4 Molecular and experimental biology in medicine Hrčak |
Održavanje sustava u tijeku
Sustav je trenutačno nedostupan zbog održavanja.
Zapisi o posjedovanju i primjercima trenutačno nisu dostupni. Za više informacija kontaktirajte osoblje knjižnice ili pošaljite upit administratoru:
Internet
https://doi.org/10.33602/mebm.2.2.4Molecular and experimental biology in medicine
Hrčak