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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
F Brancati, L Travaglini, D Zablocka, E Boltshauser, P Accorsi, G Montagna, JL Silhavy, G Barrano, E Bertini, F Emma, L Rigoli, The International JSRD Study Group, B Dallapiccola, JG Gleeson, EM ValenVolume:
74
Year:
2008
Language:
english
Pages:
7
DOI:
10.1111/j.1399-0004.2008.01047.x
File:
PDF, 149 KB
english, 2008