000 | 02115 a2200637 4500 | ||
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005 | 20250515205818.0 | ||
264 | 0 | _c20100319 | |
008 | 201003s 0 0 eng d | ||
022 | _a1537-6605 | ||
024 | 7 |
_a10.1016/j.ajhg.2009.12.016 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aNikopoulos, Konstantinos | |
245 | 0 | 0 |
_aNext-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. _h[electronic resource] |
260 |
_bAmerican journal of human genetics _cFeb 2010 |
||
300 |
_a240-7 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAmino Acid Sequence |
650 | 0 | 4 |
_aBase Pairing _xgenetics |
650 | 0 | 4 | _aBase Sequence |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 | _aFamily |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aFundus Oculi |
650 | 0 | 4 | _aGenetic Linkage |
650 | 0 | 4 | _aGenome-Wide Association Study |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMembrane Proteins _xchemistry |
650 | 0 | 4 | _aMolecular Sequence Data |
650 | 0 | 4 |
_aMutation _xgenetics |
650 | 0 | 4 |
_aMutation, Missense _xgenetics |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 |
_aPolymorphism, Single Nucleotide _xgenetics |
650 | 0 | 4 |
_aRetinal Diseases _xgenetics |
650 | 0 | 4 |
_aSequence Analysis, DNA _xmethods |
650 | 0 | 4 | _aTetraspanins |
700 | 1 | _aGilissen, Christian | |
700 | 1 | _aHoischen, Alexander | |
700 | 1 | _avan Nouhuys, C Erik | |
700 | 1 | _aBoonstra, F Nienke | |
700 | 1 | _aBlokland, Ellen A W | |
700 | 1 | _aArts, Peer | |
700 | 1 | _aWieskamp, Nienke | |
700 | 1 | _aStrom, Tim M | |
700 | 1 | _aAyuso, Carmen | |
700 | 1 | _aTilanus, Mauk A D | |
700 | 1 | _aBouwhuis, Sanne | |
700 | 1 | _aMukhopadhyay, Arijit | |
700 | 1 | _aScheffer, Hans | |
700 | 1 | _aHoefsloot, Lies H | |
700 | 1 | _aVeltman, Joris A | |
700 | 1 | _aCremers, Frans P M | |
700 | 1 | _aCollin, Rob W J | |
773 | 0 |
_tAmerican journal of human genetics _gvol. 86 _gno. 2 _gp. 240-7 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2009.12.016 _zAvailable from publisher's website |
999 |
_c19529059 _d19529059 |