患有原发性先天性青光眼的兄弟姐妹中出现新型纯合子CYP1B1缺失。 - Suppr

Novel homozygous CYP1B1 deletion in siblings with primary congenital glaucoma.

Damjanovich Kristy, Baldwin Erin E, Lewis Tracey, Bayrak-Toydemir Pinar

Ophthalmic Genet. 2013 Sep;34(3):180-1. doi: 10.3109/13816810.2012.743571. Epub 2012 Dec 6.

Abstract

摘要

Ophthalmic Genet. 2013 Sep;34(3):180-1. doi: 10.3109/13816810.2012.743571. Epub 2012 Dec 6.

J Glaucoma. 2010 Mar;19(3):176-82. doi: 10.1097/IJG.0b013e3181a98bae.

Hum Mol Genet. 2010 Oct 15;19(20):4083-90. doi: 10.1093/hmg/ddq309. Epub 2010 Jul 21.

J AAPOS. 2012 Dec;16(6):571-2. doi: 10.1016/j.jaapos.2012.07.007. Epub 2012 Nov 14.

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):14-20. doi: 10.3109/13816810.2012.716486. Epub 2012 Aug 27.

J Glaucoma. 2010 Aug;19(6):398-404. doi: 10.1097/IJG.0b013e3181c4ae74.

Hum Mol Genet. 1997 Apr;6(4):641-7. doi: 10.1093/hmg/6.4.641.

Am J Ophthalmol. 2011 Feb;151(2):263-71.e1. doi: 10.1016/j.ajo.2010.08.038. Epub 2010 Dec 18.

Ophthalmic Genet. 2015 Mar;36(1):89-91. doi: 10.3109/13816810.2013.833635. Epub 2013 Sep 3.

J AAPOS. 2013 Feb;17(1):105-7. doi: 10.1016/j.jaapos.2012.09.011. Epub 2013 Jan 28.

Mol Genet Genomic Med. 2019 Aug;7(8):e774. doi: 10.1002/mgg3.774. Epub 2019 Jun 28.

J Glaucoma. 2017 Dec;26(12):1063-1067. doi: 10.1097/IJG.0000000000000792.

Mol Vis. 2015 Feb 11;21:160-4. eCollection 2015.

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