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
;Jacoby, Monique ;Schurmans, Stéphane ;Dallapiccola, B;Majerus, Philip W;Valente, Enza Maria;Gleeson, Joseph GRéférence 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 |
