000 | 01330 a2200301 4500 | ||
---|---|---|---|
005 | 20250518073311.0 | ||
264 | 0 | _c20210514 | |
008 | 202105s 0 0 eng d | ||
022 | _a1590-3478 | ||
024 | 7 |
_a10.1007/s10072-019-04179-6 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aCoelho, Pedro | |
245 | 0 | 0 |
_aFirst Portuguese patient presenting with hereditary sensory and autonomic neuropathy type 1E associated with a novel mutation in DNMT1 gene. _h[electronic resource] |
260 |
_bNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology _cMay 2020 |
||
300 |
_a1289-1290 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Letter | ||
650 | 0 | 4 |
_aDNA (Cytosine-5-)-Methyltransferase 1 _xgenetics |
650 | 0 | 4 |
_aHereditary Sensory and Autonomic Neuropathies _xdiagnosis |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aPortugal |
650 | 0 | 4 | _aYoung Adult |
700 | 1 | _aOliveira Santos, Miguel | |
773 | 0 |
_tNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology _gvol. 41 _gno. 5 _gp. 1289-1290 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1007/s10072-019-04179-6 _zAvailable from publisher's website |
999 |
_c30392028 _d30392028 |