Publications:

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Hereditas

Abtahi, Rezvan R; Karimzadeh, Parvaneh P; Aryani, Omid O; Akbarzadeh, Diba D; Salehpour, Shadab S; Rezayi, Alireza A; Tonekaboni, Seyed Hassan SH; Emameh, Reza Zolfaghari RZ; Houshmand, Massoud M

Publication Date: 2022-01-27

Variant appearance in text: NPC1: Asn169Ile

PubMed Link: 35086560

Variant Present in the following documents:

• Main text
• 41065_2022_Article_224.pdf

View BVdb publication page

Identification of novel mutations among Iranian NPC1 patients: a bioinformatics approach to predict pathogenic mutations.

Hereditas

Abtahi, Rezvan R; Karimzadeh, Parvaneh P; Aryani, Omid O; Akbarzadeh, Diba D; Salehpour, Shadab S; Rezayi, Alireza A; Tonekaboni, Seyed Hassan SH; Emameh, Reza Zolfaghari RZ; Houshmand, Massoud M

Publication Date: 2022-01-27

Variant appearance in text: NPC1: Asn169Ile

PubMed Link: 35086560

Variant Present in the following documents:

• Main text
• 41065_2022_Article_224.pdf

View BVdb publication page

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.

Ebiomedicine

Reunert, Janine J; Fobker, Manfred M; Kannenberg, Frank F; Du Chesne, Ingrid I; Plate, Maria M; Wellhausen, Judith J; Rust, Stephan S; Marquardt, Thorsten T

Publication Date: 2016-02

Variant appearance in text: NPC1: N169I

PubMed Link: 26981555

Variant Present in the following documents:

• Main text
• mmc1.pdf
• main.pdf

View BVdb publication page