| 000 | 01824 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250517081902.0 | ||
| 264 | 0 | _c20161013 | |
| 008 | 201610s 0 0 eng d | ||
| 022 | _a1090-0535 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHulleman, John D | |
| 245 | 0 | 0 |
_aA novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. _h[electronic resource] |
| 260 |
_bMolecular vision _c2016 |
||
| 300 |
_a73-81 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aBardet-Biedl Syndrome _xgenetics |
| 650 | 0 | 4 | _aBlotting, Western |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGroup II Chaperonins _xgenetics |
| 650 | 0 | 4 | _aHEK293 Cells |
| 650 | 0 | 4 |
_aHeart Defects, Congenital _xgenetics |
| 650 | 0 | 4 | _aHigh-Throughput Nucleotide Sequencing |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHydrocolpos _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPlasmids |
| 650 | 0 | 4 |
_aPolydactyly _xgenetics |
| 650 | 0 | 4 |
_aRetinal Pigment Epithelium _xcytology |
| 650 | 0 | 4 |
_aRetinitis Pigmentosa _xgenetics |
| 650 | 0 | 4 | _aSiblings |
| 650 | 0 | 4 | _aTomography, Optical Coherence |
| 650 | 0 | 4 |
_aUterine Diseases _xgenetics |
| 700 | 1 | _aNguyen, Annie | |
| 700 | 1 | _aRamprasad, V L | |
| 700 | 1 | _aMurugan, Sakthivel | |
| 700 | 1 | _aGupta, Ravi | |
| 700 | 1 | _aMahindrakar, Avinash | |
| 700 | 1 | _aAngara, Ravi | |
| 700 | 1 | _aSankurathri, Chandrasekhar | |
| 700 | 1 | _aMootha, V Vinod | |
| 773 | 0 |
_tMolecular vision _gvol. 22 _gp. 73-81 |
|
| 999 |
_c25755504 _d25755504 |
||