Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis

Osteopoikilosis is an autosomal dominant bone disorder characterized by symmetric multiple osteosclerotic lesions throughout the axial and appendicular skeleton. Pathogenic variants in the LEMD3 have been identified as the cause of osteopoikilosis. LEMD3 encodes an inner nuclear membrane protein tha...

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Detalles Bibliográficos
Autores principales: Yoo, In Young, Song, Ju-Sun, Ki, Chang-Seok, Kim, Jong-Won, Cha, Hoon-Suk, Min, Yong-Ki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5587830/
https://www.ncbi.nlm.nih.gov/pubmed/28840995
http://dx.doi.org/10.3343/alm.2017.37.6.540

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5587830/
https://www.ncbi.nlm.nih.gov/pubmed/28840995
http://dx.doi.org/10.3343/alm.2017.37.6.540

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