ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder
| Title: | ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder |
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| Authors: | Williams, LB; Javed, A; Sabri, A; Morgan, DJ; Huff, CD; Grigg, JR; Heng, XT; Khng, AJ; Hollink, Iris; Morrison, M A; Owen, LA; Anderson, K; Kinard, K; Greenlees, R; Novacic, D; Sen, HN; Zein, WM; Rodgers, GM; Vitale, AT; Haider, NB; Hillmer, AM; Ng, PC; Shankaracharya; Cheng, A; Zheng, LD; Gillies, MC; van Slegtenhorst, M; van Hagen, P.M.; Missotten, T; Farley, GL; Polo, M; Malatack, J; Curtin, J; Martin, F; Arbuckle, S; Alexander, SI; Chircop, M; Davila, S; Digre, KB; Jamieson, RV; DeAngelis, MM |
| Source: | Williams, LB, Javed, A, Sabri, A, Morgan, DJ, Huff, CD, Grigg, JR, Heng, XT, Khng, AJ, Hollink, I, Morrison, M A, Owen, LA, Anderson, K, Kinard, K, Greenlees, R, Novacic, D, Sen, HN, Zein, WM, Rodgers, GM, Vitale, AT, Haider, NB, Hillmer, AM, Ng, PC, Shankaracharya, Cheng, A, Zheng, LD, Gillies, MC, van Slegtenhorst, M, van Hagen, P M, Missotten, T, Farley, GL, Polo, M, Malatack, J, Curtin, J, Martin, F, Arbuckle, S, Alexander, SI, Chircop, M, Davila, S, Digre, KB, Jamieson, RV & DeAngelis, MM 2019, 'ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an .... |
| Publication Year: | 2019 |
| Subject Terms: | /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM027202; name=EMC MM-02-72-02 |
| Document Type: | article in journal/newspaper |
| File Description: | application/pdf |
| Language: | unknown |
| ISSN: | 1098-3600; 1530-0366 |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/30967659; info:eu-repo/semantics/altIdentifier/pissn/1098-3600; info:eu-repo/semantics/altIdentifier/eissn/1530-0366 |
| DOI: | 10.1038/s41436-019-0476-3 |
| Availability: | https://pure.eur.nl/en/publications/1a39b99a-08db-4031-b28c-f8f093f2a616; https://doi.org/10.1038/s41436-019-0476-3; https://pure.eur.nl/ws/files/48241791/Repub_121044_O-A.pdf; https://hdl.handle.net/1765/121044 |
| Rights: | info:eu-repo/semantics/openAccess |
| Accession Number: | edsbas.67B7857F |
| Database: | BASE |