换一批
换一批A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.
第一作者：
John D,Hulleman
第一单位：
Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, TX; Department of Pharmacology, University of Texas Southwestern Medical Center, Dallas, TX.
作者：
主题词
畸形, 多发性(Abnormalities, Multiple);青少年(Adolescent);巴德特-别德尔综合征(Bardet-Biedl Syndrome);印迹法, 蛋白质(Blotting, Western);近亲(Consanguinity);DNA突变分析(DNA Mutational Analysis);女(雌)性(Female);Ⅱ型监控蛋白质类(Group II Chaperonins);HEK293细胞(HEK293 Cells);心脏缺损, 先天性(Heart Defects, Congenital);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);阴道积液(Hydrocolpos);男(雄)性(Male);突变, 误义(Mutation, Missense);系谱(Pedigree);质粒(Plasmids);多指(趾)畸形(Polydactyly);视网膜色素上皮(Retinal Pigment Epithelium);色素性视网膜炎(Retinitis Pigmentosa);同胞(Siblings);体层摄影术, 光学相干(Tomography, Optical Coherence);子宫疾病(Uterine Diseases)
PMID
26900326
发布时间
2018-11-13
- 浏览4
Molecular vision
73-81页
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