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 |