Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family

Atypical Gaucher disease is caused by variants in the PSAP gene. Saposin C is one of four homologous proteins derived from sequential cleavage of the saposin precursor protein, prosaposin. It is an essential activator for glucocerebrosidase, which is deficient in Gaucher disease. Although atypical G...

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Detalles Bibliográficos
Autores principales: Liaqat, Khurram, Hussain, Shabir, Acharya, Anushree, Nasir, Abdul, Bharadwaj, Thashi, Ansar, Muhammad, Basit, Sulman, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9028228/
https://www.ncbi.nlm.nih.gov/pubmed/35456468
http://dx.doi.org/10.3390/genes13040662

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9028228/
https://www.ncbi.nlm.nih.gov/pubmed/35456468
http://dx.doi.org/10.3390/genes13040662

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