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