| 000 | 01476 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250518095953.0 | ||
| 264 | 0 | _c20200518 | |
| 008 | 202005s 0 0 eng d | ||
| 022 | _a1879-0038 | ||
| 024 | 7 |
_a10.1016/j.gene.2020.144683 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aAl-Eitan, Laith | |
| 245 | 0 | 0 |
_aNovel mutations in the SMPD1 gene in Jordanian children with Acid sphingomyelinase deficiency (Niemann-Pick types A and B). _h[electronic resource] |
| 260 |
_bGene _cJul 2020 |
||
| 300 |
_a144683 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aFatal Outcome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aJordan |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aNiemann-Pick Disease, Type A _xenzymology |
| 650 | 0 | 4 |
_aNiemann-Pick Disease, Type B _xenzymology |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aSphingomyelin Phosphodiesterase _xchemistry |
| 700 | 1 | _aAlqa'qa', Kifah | |
| 700 | 1 | _aAmayreh, Wajdi | |
| 700 | 1 | _aAljamal, Hanan | |
| 700 | 1 | _aKhasawneh, Rame | |
| 700 | 1 | _aAl-Zoubi, Batool | |
| 700 | 1 | _aOkour, Israa | |
| 700 | 1 | _aHaddad, Amany | |
| 700 | 1 | _aHaddad, Yazan | |
| 700 | 1 | _aHaddad, Hazem | |
| 773 | 0 |
_tGene _gvol. 747 _gp. 144683 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.gene.2020.144683 _zAvailable from publisher's website |
| 999 |
_c30877908 _d30877908 |
||