| 000 | 01622 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250517091722.0 | ||
| 264 | 0 | _c20170228 | |
| 008 | 201702s 0 0 eng d | ||
| 022 | _a1791-244X | ||
| 024 | 7 |
_a10.3892/ijmm.2016.2551 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLiu, Sanmei | |
| 245 | 0 | 0 |
_aWhole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa. _h[electronic resource] |
| 260 |
_bInternational journal of molecular medicine _cJun 2016 |
||
| 300 |
_a1528-34 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAC133 Antigen _xgenetics |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aCase-Control Studies |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHigh-Throughput Nucleotide Sequencing |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLeukocytes, Mononuclear _xmetabolism |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRetinitis Pigmentosa _xgenetics |
| 700 | 1 | _aXie, Lan | |
| 700 | 1 | _aYue, Jun | |
| 700 | 1 | _aMa, Tao | |
| 700 | 1 | _aPeng, Chunyan | |
| 700 | 1 | _aQiu, Biyuan | |
| 700 | 1 | _aYang, Zhenglin | |
| 700 | 1 | _aYang, Jiyun | |
| 773 | 0 |
_tInternational journal of molecular medicine _gvol. 37 _gno. 6 _gp. 1528-34 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.3892/ijmm.2016.2551 _zAvailable from publisher's website |
| 999 |
_c25929664 _d25929664 |
||