000 | 01176 a2200373 4500 | ||
---|---|---|---|
005 | 20250517191741.0 | ||
264 | 0 | _c20181211 | |
008 | 201812s 0 0 eng d | ||
022 | _a1476-5454 | ||
024 | 7 |
_a10.1038/eye.2017.268 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aBerry, V | |
245 | 0 | 0 |
_aA novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. _h[electronic resource] |
260 |
_bEye (London, England) _c04 2018 |
||
300 |
_a806-812 p. _bdigital |
||
500 | _aPublication Type: Journal Article | ||
650 | 0 | 4 |
_aCataract _xgenetics |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aHeat Shock Transcription Factors _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation, Missense |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aExome Sequencing |
700 | 1 | _aPontikos, N | |
700 | 1 | _aMoore, A | |
700 | 1 | _aIonides, A C W | |
700 | 1 | _aPlagnol, V | |
700 | 1 | _aCheetham, M E | |
700 | 1 | _aMichaelides, M | |
773 | 0 |
_tEye (London, England) _gvol. 32 _gno. 4 _gp. 806-812 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1038/eye.2017.268 _zAvailable from publisher's website |
999 |
_c27892039 _d27892039 |