A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9)

A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9)

Abstract Background Hermansky-Pudlak Syndrome (HPS), a rare autosomal recessive disorder, is characterized by oculocutaneous albinism, bleeding diathesis, and sometimes severe lung problems and inflammatory bowel disease. Symptoms include skin and hair pigmentation variations, along with visual impa...

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Bibliographic Details
Main Authors: Seyyed Mohammad Kahani, Ali Rabbizadeh Saray, Mir Salar Kahaei, Ali Dehghani, Pouria Mohammadi, Masoud Garshasbi
Format: Article
Language:English
Published: BMC 2024-08-01
Series:BMC Genomics
Subjects:
Albinism
Hermansky-pudlock syndrome type 9
Whole exome sequencing
Primer-walking
GAP-PCR
Online Access:https://doi.org/10.1186/s12864-024-10478-w

Internet

https://doi.org/10.1186/s12864-024-10478-w

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