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2014 | 1 |
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Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.
Acta Paediatr Taiwan. 2005 Jul-Aug;46(4):226-9.
Acta Paediatr Taiwan. 2005.
PMID: 16381338
A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.
Nakanishi K, Nozu K, Hiramoto R, Minamikawa S, Yamamura T, Fujimura J, Horinouchi T, Ninchoji T, Kaito H, Morisada N, Ishimori S, Nakanishi K, Morioka I, Awano H, Matsuo M, Iijima K.
Nakanishi K, et al.
Eur J Med Genet. 2017 Dec;60(12):631-634. doi: 10.1016/j.ejmg.2017.08.001. Epub 2017 Aug 9.
Eur J Med Genet. 2017.
PMID: 28803024
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Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
Recker F, Zaniew M, Böckenhauer D, Miglietti N, Bökenkamp A, Moczulska A, Rogowska-Kalisz A, Laube G, Said-Conti V, Kasap-Demir B, Niemirska A, Litwin M, Siteń G, Chrzanowska KH, Krajewska-Walasek M, Sethi SK, Tasic V, Anglani F, Addis M, Wasilewska A, Szczepańska M, Pawlaczyk K, Sikora P, Ludwig M.
Recker F, et al.
Pediatr Nephrol. 2015 Jun;30(6):931-43. doi: 10.1007/s00467-014-3013-2. Epub 2014 Dec 6.
Pediatr Nephrol. 2015.
PMID: 25480730
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