Novel mutation in ATP13A2 widens the spectrum of Kufor‐Rakeb syndrome (PARK9)

• Published in: Clinical Genetics
• Main Authors: Eiberg, H, Hansen, L, Korbo, L, Nielsen, IM, Svenstrup, K, Bech, S, Pinborg, LH, Friberg, L, Hjermind, LE, Olsen, OR, Nielsen, JE
• Format: Article in Journal/Newspaper
• Language: English
• Published: Wiley 2011
• Subjects: greenlandic; inuit
• Online Access: http://dx.doi.org/10.1111/j.1399-0004.2011.01745.x; https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.2011.01745.x; https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1399-0004.2011.01745.x

Eiberg H, Hansen L, Korbo L, Nielsen IM, Svenstrup K, Bech S, Pinborg LH, Friberg L, Hjermind LE, Olsen OR, Nielsen JE. Novel mutation in ATP13A2 widens the spectrum of Kufor‐Rakeb syndrome (PARK9). Kufor‐Rakeb syndrome (KRS) is a rare autosomal recessive inherited juvenile parkinsonian syndrome cau...