Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

CHIME syndrome is an extremely rare autosomal recessive multisystemic disorder caused by mutations in PIGL. PIGL is an endoplasmic reticulum localized enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which plays a role in the anchorage of cell-surface protein...

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Detalles Bibliográficos
Autores principales: Ceroni, José RM, Yamamoto, Guilherme L, Honjo, Rachel S, Kim, Chong A, Passos-Bueno, Maria R, Bertola, Débora R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2018
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5901507/
https://www.ncbi.nlm.nih.gov/pubmed/29473937
http://dx.doi.org/10.1590/1678-4685-GMB-2017-0172

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5901507/
https://www.ncbi.nlm.nih.gov/pubmed/29473937
http://dx.doi.org/10.1590/1678-4685-GMB-2017-0172

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