| 000 | 01476 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250516014737.0 | ||
| 264 | 0 | _c20110526 | |
| 008 | 201105s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.2010.083568 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSimpson, David A | |
| 245 | 0 | 0 |
_aMolecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cMar 2011 |
||
| 300 |
_a145-51 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCyclic Nucleotide Phosphodiesterases, Type 6 _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Diseases, Inborn _xdiagnosis |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 |
_aHigh-Throughput Nucleotide Sequencing _xmethods |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aRetinitis Pigmentosa _xdiagnosis |
| 700 | 1 | _aClark, Graeme R | |
| 700 | 1 | _aAlexander, Sharon | |
| 700 | 1 | _aSilvestri, Giuliana | |
| 700 | 1 | _aWilloughby, Colin E | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 48 _gno. 3 _gp. 145-51 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.2010.083568 _zAvailable from publisher's website |
| 999 |
_c20438196 _d20438196 |
||