학술논문
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis
Document Type
Article
Author
Macia, M.S.; Delous, M.; Gutter, A.; Filhol, E.; Bizet, A.; Silbermann, F.; Henry, C.; Krug, P.; Saunier, S.; Benmerah, A.; Bole-Feysot, C.; Nitschké, P.; Halbritter, J.; Braun, D.A.; Gee, H.Y.; Hildebrandt, F.; Bredrup, C.; Mellgren, A.E.C.; Rødahl, E.; Knappskog, P.M.; Boman, H.; Johansson, S.; Leh, S.; Joly, D.; Nicoud, P.; Paget, A.; Haugland, H.; Brackmann, D.; Ahmet, N.; Sandford, R.; Cengiz, N.; Linghu, B.; Yang, F.; Oakeley, E.J.; Saint Mézard, P.; Sailer, A.W.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 2 February 2017, 100(2):323-333)
Subject
Language
English
ISSN
15376605
00029297
00029297