par Bielas, Stephanie L;Silhavy, Jennifer L;Brancati, Francesco;Kisseleva, Marina V;Al-Gazali, Lihadh;Sztriha, Laszlo;Bayoumi, Riad A;Zaki, Maha S;Abdel-Aleem, Alice;Rosti, Rasim Ozgur;Kayserili, H;Swistun, Dominika;Scott, Lesley C;Bertini, E;Boltshauser, Eugen;Fazzi, Elisa;Travaglini, Lorena;Field, Seth J;Gayral, Stéphanie
;Jacoby, Monique
;Schurmans, Stéphane
;Dallapiccola, B;Majerus, Philip W;Valente, Enza Maria;Gleeson, Joseph G
Référence Nature genetics, 41, 9, page (1032-1036)
Publication Publié, 2009-09



Référence Nature genetics, 41, 9, page (1032-1036)
Publication Publié, 2009-09
Article révisé par les pairs
Titre: |
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Auteur: | Bielas, Stephanie L; Silhavy, Jennifer L; Brancati, Francesco; Kisseleva, Marina V; Al-Gazali, Lihadh; Sztriha, Laszlo; Bayoumi, Riad A; Zaki, Maha S; Abdel-Aleem, Alice; Rosti, Rasim Ozgur; Kayserili, H; Swistun, Dominika; Scott, Lesley C; Bertini, E; Boltshauser, Eugen; Fazzi, Elisa; Travaglini, Lorena; Field, Seth J; Gayral, Stéphanie; Jacoby, Monique; Schurmans, Stéphane; Dallapiccola, B; Majerus, Philip W; Valente, Enza Maria; Gleeson, Joseph G |
Informations sur la publication: | Nature genetics, 41, 9, page (1032-1036) |
Statut de publication: | Publié, 2009-09 |
Sujet CREF: | Sciences bio-médicales et agricoles |
MeSH keywords: | Acetylation |
Amino Acid Substitution | |
Animals | |
Base Sequence | |
Brain -- radiography | |
Case-Control Studies | |
Catalytic Domain | |
Cell Line | |
Chromosomes, Human, Pair 9 | |
Cilia -- enzymology | |
Cilia -- pathology | |
Consanguinity | |
Culture Media, Serum-Free | |
Fibroblasts -- metabolism | |
Fibroblasts -- ultrastructure | |
Green Fluorescent Proteins -- metabolism | |
Haplotypes | |
Homozygote | |
Humans | |
Hydrolysis | |
Linkage (Genetics) | |
Mice | |
Mice, Transgenic | |
Molecular Sequence Data | |
Mutation | |
Mutation, Missense | |
Phosphatidylinositol 4,5-Diphosphate -- genetics | |
Phosphatidylinositol Phosphates -- genetics | |
Phosphatidylinositols -- genetics | |
Phosphoric Monoester Hydrolases -- chemistry | |
Phosphoric Monoester Hydrolases -- genetics | |
Phosphoric Monoester Hydrolases -- metabolism | |
Physical Chromosome Mapping | |
Pigment Epithelium of Eye -- cytology | |
Polymorphism, Single Nucleotide | |
Protein Structure, Tertiary | |
Serum -- metabolism | |
Signal Transduction -- genetics | |
Tubulin -- metabolism | |
Note générale: | Journal Article |
Research Support, N.I.H., Extramural | |
Research Support, Non-U.S. Gov't | |
SCOPUS: ar.j | |
Langue: | Anglais |
Identificateurs: | urn:issn:1061-4036 |
info:doi/10.1038/ng.423 | |
info:pii/ng.423 | |
info:scp/69349094765 | |
info:pmid/19668216 | |
PMC2746682 |