Autoantibody Positivity in Two Bahraini Siblings With a Novel Alpha-Methylacyl-CoA Racemase Mutation

Bile acid synthesis disorders (BASD) are a group of rare autosomal recessive disorders. Of the nine different versions, BASD type 4 is characterized by a gene mutation in alpha-methylacyl-CoA racemase (AMACR), which is located on chromosome 5p13. These disorders generally present with a normal gamma...

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Detalles Bibliográficos
Autores principales: Isa, Hasan M, Khudair, Ahmed D, Marshall, Rachel A, Khudair, Aiman D, Al-Rawahia, Thuraiya H, Busehail, Maryam Y
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10414798/
https://www.ncbi.nlm.nih.gov/pubmed/37575761
http://dx.doi.org/10.7759/cureus.41720

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10414798/
https://www.ncbi.nlm.nih.gov/pubmed/37575761
http://dx.doi.org/10.7759/cureus.41720

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