| 000 | 01528 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250516091816.0 | ||
| 264 | 0 | _c20121018 | |
| 008 | 201210s 0 0 eng d | ||
| 022 | _a1613-2246 | ||
| 024 | 7 |
_a10.1007/s10384-012-0145-4 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMatsushita, Itsuka | |
| 245 | 0 | 0 |
_aNovel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos. _h[electronic resource] |
| 260 |
_bJapanese journal of ophthalmology _cJul 2012 |
||
| 300 |
_a396-400 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAsian People _xgenetics |
| 650 | 0 | 4 |
_aAxial Length, Eye _xpathology |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aElectroretinography |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFluorescein Angiography |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aJapan |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 |
_aMicrophthalmos _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 |
_aPosterior Eye Segment _xabnormalities |
| 650 | 0 | 4 | _aTomography, Optical Coherence |
| 700 | 1 | _aKondo, Hiroyuki | |
| 700 | 1 | _aTawara, Akihiko | |
| 773 | 0 |
_tJapanese journal of ophthalmology _gvol. 56 _gno. 4 _gp. 396-400 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10384-012-0145-4 _zAvailable from publisher's website |
| 999 |
_c21762077 _d21762077 |
||