Advanced search
1 file | 232.57 KB

Novel TMEM67 mutations and genotype-phenotype correlates in Meckelin-related ciliopathies

(2010) HUMAN MUTATION. 31(5). p.E1319-E1331
Author
Organization
Keywords
CILIARY, NEPHRONOPHTHISIS, MKS3, TMEM67, DISEASES, DEFECTS, Meckel syndrome, PRIMARY CILIUM, congenital hepatic fibrosis, Joubert syndrome, COACH syndrome, JOUBERT-SYNDROME, GRUBER-SYNDROME

Downloads

  • (...).pdf
    • full text
    • |
    • UGent only
    • |
    • PDF
    • |
    • 232.57 KB

Citation

Please use this url to cite or link to this publication:

Chicago
Iannicelli, Miriam, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, et al. 2010. “Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies.” Human Mutation 31 (5): E1319–E1331.
APA
Iannicelli, M., Brancati, F., Mougou-Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., Travaglini, L., et al. (2010). Novel TMEM67 mutations and genotype-phenotype correlates in Meckelin-related ciliopathies. HUMAN MUTATION, 31(5), E1319–E1331.
Vancouver
1.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, et al. Novel TMEM67 mutations and genotype-phenotype correlates in Meckelin-related ciliopathies. HUMAN MUTATION. 2010;31(5):E1319–E1331.
MLA
Iannicelli, Miriam, Francesco Brancati, Soumaya Mougou-Zerelli, et al. “Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies.” HUMAN MUTATION 31.5 (2010): E1319–E1331. Print.
@article{1061166,
  author       = {Iannicelli, Miriam and Brancati, Francesco and Mougou-Zerelli, Soumaya and Mazzotta, Annalisa and Thomas, Sophie and Elkhartoufi, Nadia and Travaglini, Lorena and Gomes, Celine and Ardissino, Gian Luigi and Bertini, Enrico and Boltshauser, Eugen and Castorina, Pierangela and D'Arrigo, Stefano and Fischetto, Rita and Leroy, Brigitte and Loget, Philippe and Bonniere, Maryse and Starck, Lena and Tantau, Julia and Gentilin, Barbara and Majore, Silvia and Swistun, Dominika and Flori, Elizabeth and Lalatta, Faustina and Pantaleoni, Chiara and Penzien, Johannes and Grammatico, Paola and Dallapiccola, Bruno and Gleeson, Joseph G and Attie-Bitach, Tania and Valente, Enza Maria and International JSRD Study Group,   and Van Coster, Rudy},
  issn         = {1059-7794},
  journal      = {HUMAN MUTATION},
  language     = {eng},
  number       = {5},
  pages        = {E1319--E1331},
  title        = {Novel TMEM67 mutations and genotype-phenotype correlates in Meckelin-related ciliopathies},
  url          = {http://dx.doi.org/10.1002/humu.21239},
  volume       = {31},
  year         = {2010},
}

Altmetric
View in Altmetric
Web of Science
Times cited: