학술논문
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
Document Type
Artikel
Author
Iannicelli, M; Brancati, F; Mougou-Zerelli, S; Mazzotta, A; Thomas, S; Elkhartoufi, N; Travaglini, L; Gomes, C; Ardissino, GL; Bertini, E; Boltshauser, E; Castorina, P; D'Arrigo, S; Fischetto, R; Leroy, B; Loget, P; Bonniere, M; Starck, L; Tantau, J; Gentilin, B; Majore, S; Swistun, D; Flori, E; Lalatta, F; Pantaleoni, C; Penzien, J; Grammatico, P; Dallapiccola, B; Gleeson, JG; Attie-Bitach, T; Valente, EM
Source
Human mutation. 31(5):E1319-E1331
Subject
Language
English
English
English
ISSN
1098-1004