000 02115 a2200637 4500
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