Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis

Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, is a rare genetic disease affecting both skin and bones. Both autosomal dominant with incomplete penetrance and recessive inheritance of PDP have been previously confirmed. Recently, hydroxyprostaglandin dehydrogenase (HPGD) and...

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Detalles Bibliográficos
Autores principales: Lee, Sihoon, Park, So Young, Kwon, Hyun Jin, Lee, Chul-Ho, Kim, Ok-Hwa, Rhee, Yumie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835599/
https://www.ncbi.nlm.nih.gov/pubmed/27134495
http://dx.doi.org/10.3346/jkms.2016.31.5.735

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