000 02419 a2200745 4500
005 20250516104843.0
264 0 _c20121022
008 201210s 0 0 eng d
022 _a1537-6605
024 7 _a10.1016/j.ajhg.2012.07.014
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aIshiura, Hiroyuki
245 0 0 _aThe TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.
_h[electronic resource]
260 _bAmerican journal of human genetics
_cAug 2012
300 _a320-9 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aBase Sequence
650 0 4 _aChromosomes, Human, Pair 3
_xgenetics
650 0 4 _aDNA-Binding Proteins
_xgenetics
650 0 4 _aExome
_xgenetics
650 0 4 _aGenetic Linkage
650 0 4 _aGenetic Predisposition to Disease
_xgenetics
650 0 4 _aGolgi Apparatus
_xpathology
650 0 4 _aHaplotypes
_xgenetics
650 0 4 _aHereditary Sensory and Motor Neuropathy
_xgenetics
650 0 4 _aHumans
650 0 4 _aInclusion Bodies
_xpathology
650 0 4 _aJapan
650 0 4 _aMolecular Sequence Data
650 0 4 _aMotor Neurons
_xpathology
650 0 4 _aPedigree
650 0 4 _aPoint Mutation
_xgenetics
650 0 4 _aPolymorphism, Single Nucleotide
_xgenetics
650 0 4 _aProteins
_xgenetics
650 0 4 _aSequence Analysis, DNA
700 1 _aSako, Wataru
700 1 _aYoshida, Mari
700 1 _aKawarai, Toshitaka
700 1 _aTanabe, Osamu
700 1 _aGoto, Jun
700 1 _aTakahashi, Yuji
700 1 _aDate, Hidetoshi
700 1 _aMitsui, Jun
700 1 _aAhsan, Budrul
700 1 _aIchikawa, Yaeko
700 1 _aIwata, Atsushi
700 1 _aYoshino, Hiide
700 1 _aIzumi, Yuishin
700 1 _aFujita, Koji
700 1 _aMaeda, Kouji
700 1 _aGoto, Satoshi
700 1 _aKoizumi, Hidetaka
700 1 _aMorigaki, Ryoma
700 1 _aIkemura, Masako
700 1 _aYamauchi, Naoko
700 1 _aMurayama, Shigeo
700 1 _aNicholson, Garth A
700 1 _aIto, Hidefumi
700 1 _aSobue, Gen
700 1 _aNakagawa, Masanori
700 1 _aKaji, Ryuji
700 1 _aTsuji, Shoji
773 0 _tAmerican journal of human genetics
_gvol. 91
_gno. 2
_gp. 320-9
856 4 0 _uhttps://doi.org/10.1016/j.ajhg.2012.07.014
_zAvailable from publisher's website
999 _c22016046
_d22016046