Funder
Instituto de Salud Carlos III
Ministerio de Economía y Competitividad
Consejería de educacion de Castilla-La Mancha
Ramon Areces Foundation and Regional Government of Madrid
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference56 articles.
1. Ali M, McKibbin M, Booth A, Parry DA, Jain P, Riazuddin SA, Hejtmancik JF, Khan SN, Firasat S, Shires M, Gilmour DF, Towns K, Murphy AL, Azmanov D, Tournev I, Cherninkova S, Jafri H, Raashid Y, Toomes C, Craig J, Mackey DA, Kalaydjieva L, Riazuddin S, Inglehearn CF (2009) Null mutations in LTBP2 cause primary congenital glaucoma. Am J Hum Genet 84:664–671
2. Alsaif HS, Khan AO, Patel N, Alkuraya H, Hashem M, Abdulwahab F, Ibrahim N, Aldahmesh MA, Alkuraya FS (2019) Congenital glaucoma and CYP1B1: an old story revisited. Hum Genet 138:1043–1049. https://doi.org/10.1007/s00439-018-1878-z
3. Aroca-Aguilar J-D, Martinez-Redondo F, Martin-Gil A, Pintor J, Coca-Prados M, Escribano J (2013) Bicarbonate-dependent secretion and proteolytic processing of recombinant myocilin. PLoS ONE. https://doi.org/10.1371/journal.pone.0054385
4. Bhattacharya D, Marfo CA, Li D, Lane M, Khokha MK (2015) CRISPR/Cas9: an inexpensive, efficient loss of function tool to screen human disease genes in Xenopus. Dev Biol 408:196–204. https://doi.org/10.1016/j.ydbio.2015.11.003
5. Campos-Mollo E, Lopez-Garrido M-P, Blanco-Marchite C, Garcia-Feijoo J, Peralta J, Belmonte-Martinez J, Ayuso C, Escribano J (2009) CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. Mol Vis 15:417–431
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