Publications:

Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease.

International Journal Of Molecular Sciences

Seker Yilmaz, Berna B; Baruteau, Julien J; Rahim, Ahad A AA; Gissen, Paul P

Publication Date: 2020-07-17

Variant appearance in text: NPC1: 2740T>A; C914S

PubMed Link: 32709131

Variant Present in the following documents:

• Main text
• ijms-21-05059.pdf

View BVdb publication page

Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.

Iranian Journal Of Child Neurology

Hashemian, Somayyeh S; Eshraghi, Peyman P; Dilaver, Nafi N; Galehdari, Hamid H; Shalbafan, Bita B; Vakili, Rahim R; Ghaemi, Nosrat N; Ahangari, Najmeh N; Rezazadeh Varaghchi, Jamileh J; Zeighami, Jawaher J; Sedaghat, Alireza A; Aminzadeh, Majid M; Hamid, Mohammad M; Saberi, Alihossein A; Ashtari, Fereshteh F; Ghayoor Karimiani, Ehsan E; Shariati, Gholamreza G

Publication Date: 2019

Variant appearance in text: NPC1: 2740T>A

PubMed Link: 31037088

Variant Present in the following documents:

• Main text
• ijcn-13-155.pdf

View BVdb publication page