一种眼皮肤白化病（Hermansky-Pudlak综合征）患者的基因缺陷与临床特征[（Hennansky-Pudlak）的校正] - Suppr

Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome) [correction of (Hennansky-Pudlak)].

Fulton A B

Children's Hospital, Boston, MA 02115, USA.

Arch Ophthalmol. 1999 Feb;117(2):251-2. doi: 10.1001/archopht.117.2.251.

Abstract

摘要

Arch Ophthalmol. 1999 Feb;117(2):251-2. doi: 10.1001/archopht.117.2.251.

Mol Genet Metab. 2016 Nov;119(3):284-287. doi: 10.1016/j.ymgme.2016.08.009. Epub 2016 Sep 3.

Mol Genet Metab. 1998 Nov;65(3):254. doi: 10.1006/mgme.1998.2767.

Orphanet J Rare Dis. 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7.

J Invest Dermatol. 2006 Jan;126(1):85-90. doi: 10.1038/sj.jid.5700034.

Am J Med. 2000 Apr 1;108(5):423-7. doi: 10.1016/s0002-9343(99)00436-2.

J Coll Physicians Surg Pak. 2015 Apr;25 Suppl 1:S43-4.

Ophthalmology. 2000 Apr;107(4):783-9. doi: 10.1016/s0161-6420(99)00150-5.

N Engl J Med. 1998 Apr 30;338(18):1258-64. doi: 10.1056/NEJM199804303381803.

J Med Genet. 2004 Jun;41(6):e86. doi: 10.1136/jmg.2003.014902.

20分钟写一篇综述，助力文献阅读效率提升50倍。

大模型驱动的PubMed中文搜索引擎

学术文献翻译模型，支持多种主流文档格式。