| 000 | 01742 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250517165653.0 | ||
| 264 | 0 | _c20171207 | |
| 008 | 201712s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2017.07.015 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMatthews, A M | |
| 245 | 0 | 0 |
_aA de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _cOct 2017 |
||
| 300 |
_a548-552 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAutism Spectrum Disorder _xdiagnosis |
| 650 | 0 | 4 |
_aAutistic Disorder _xdiagnosis |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 | _aChromosome Duplication |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 1 _xgenetics |
| 650 | 0 | 4 |
_aHeart Defects, Congenital _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xdiagnosis |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aParaplegia _xdiagnosis |
| 650 | 0 | 4 | _aPaternal Inheritance |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aSpastin _xgenetics |
| 700 | 1 | _aTarailo-Graovac, M | |
| 700 | 1 | _aPrice, E M | |
| 700 | 1 | _aBlydt-Hansen, I | |
| 700 | 1 | _aGhani, A | |
| 700 | 1 | _aDrögemöller, B I | |
| 700 | 1 | _aRobinson, W P | |
| 700 | 1 | _aRoss, C J | |
| 700 | 1 | _aWasserman, W W | |
| 700 | 1 | _aSiden, H | |
| 700 | 1 | _avan Karnebeek, C D | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 60 _gno. 10 _gp. 548-552 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2017.07.015 _zAvailable from publisher's website |
| 999 |
_c27436774 _d27436774 |
||