000 | 01191 a2200349 4500 | ||
---|---|---|---|
005 | 20250518074834.0 | ||
264 | 0 | _c20210824 | |
008 | 202108s 0 0 eng d | ||
022 | _a1708-8283 | ||
024 | 7 |
_a10.1177/0883073819891269 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aButcher, Sophie | |
245 | 0 | 0 |
_aFalse Negative Carrier Screening in Spinal Muscular Atrophy. _h[electronic resource] |
260 |
_bJournal of child neurology _c03 2020 |
||
300 |
_a274-277 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 | _aFalse Negative Reactions |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 |
_aGenetic Testing _xmethods |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 |
_aMuscular Atrophy, Spinal _xdiagnosis |
650 | 0 | 4 |
_aOligonucleotides _xtherapeutic use |
650 | 0 | 4 |
_aSurvival of Motor Neuron 1 Protein _xgenetics |
700 | 1 | _aSmith, Melanie | |
700 | 1 | _aWoodcock, Ian R | |
700 | 1 | _aDelatycki, Martin | |
700 | 1 | _aRyan, Monique M | |
700 | 1 | _aForbes, Robin | |
773 | 0 |
_tJournal of child neurology _gvol. 35 _gno. 4 _gp. 274-277 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1177/0883073819891269 _zAvailable from publisher's website |
999 |
_c30441831 _d30441831 |