TY  - GEN
AU  - Hulleman,John D
AU  - Nguyen,Annie
AU  - Ramprasad,V L
AU  - Murugan,Sakthivel
AU  - Gupta,Ravi
AU  - Mahindrakar,Avinash
AU  - Angara,Ravi
AU  - Sankurathri,Chandrasekhar
AU  - Mootha,V Vinod
TI  - A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome
SN  - 1090-0535
PY  - 2016///1013
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adolescent
KW  - Bardet-Biedl Syndrome
KW  - Blotting, Western
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Female
KW  - Group II Chaperonins
KW  - HEK293 Cells
KW  - Heart Defects, Congenital
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Hydrocolpos
KW  - Male
KW  - Mutation, Missense
KW  - Pedigree
KW  - Plasmids
KW  - Polydactyly
KW  - Retinal Pigment Epithelium
KW  - cytology
KW  - Retinitis Pigmentosa
KW  - Siblings
KW  - Tomography, Optical Coherence
KW  - Uterine Diseases
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
ER  -