Hulleman, John D <br/><br/>
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.  [electronic resource] 

 -  Molecular vision  2016 
 - 73-81 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1090-0535 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adolescent<br/>Bardet-Biedl Syndrome--genetics<br/>Blotting, Western<br/>Consanguinity<br/>DNA Mutational Analysis<br/>Female<br/>Group II Chaperonins--genetics<br/>HEK293 Cells<br/>Heart Defects, Congenital--genetics<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Hydrocolpos--genetics<br/>Male<br/>Mutation, Missense<br/>Pedigree<br/>Plasmids<br/>Polydactyly--genetics<br/>Retinal Pigment Epithelium--cytology<br/>Retinitis Pigmentosa--genetics<br/>Siblings<br/>Tomography, Optical Coherence<br/>Uterine Diseases--genetics