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: PC: 1990G>A

PubMed Link: 35086560

Variant Present in the following documents:

• 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: PC: 1990G>A

PubMed Link: 35086560

Variant Present in the following documents:

• 41065_2022_Article_224.pdf

View BVdb publication page

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.

Orphanet Journal Of Rare Diseases

Jahnova, Helena H; Dvorakova, Lenka L; Vlaskova, Hana H; Hulkova, Helena H; Poupetova, Helena H; Hrebicek, Martin M; Jesina, Pavel P

Publication Date: 2014-09-19

Variant appearance in text: PC: 1990G>A

PubMed Link: 25236789

Variant Present in the following documents:

• 13023_2014_Article_140.pdf

View BVdb publication page