| 000 | 01721 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250517214307.0 | ||
| 264 | 0 | _c20190225 | |
| 008 | 201902s 0 0 eng d | ||
| 022 | _a1471-2350 | ||
| 024 | 7 |
_a10.1186/s12881-018-0592-y _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aElsayed, Liena E O | |
| 245 | 0 | 0 |
_aCase report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family. _h[electronic resource] |
| 260 |
_bBMC medical genetics _c05 2018 |
||
| 300 |
_a72 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 |
_aGroup VI Phospholipases A2 _xgenetics |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNeuroaxonal Dystrophies _xgenetics |
| 650 | 0 | 4 | _aRNA Splice Sites |
| 650 | 0 | 4 | _aSiblings |
| 650 | 0 | 4 | _aSudan |
| 650 | 0 | 4 |
_aExome Sequencing _xmethods |
| 700 | 1 | _aMohammed, Inaam N | |
| 700 | 1 | _aHamed, Ahlam A A | |
| 700 | 1 | _aElseed, Maha A | |
| 700 | 1 | _aSalih, Mustafa A M | |
| 700 | 1 | _aYahia, Ashraf | |
| 700 | 1 | _aSiddig, Rayan A | |
| 700 | 1 | _aAmin, Mutaz | |
| 700 | 1 | _aKoko, Mahmoud | |
| 700 | 1 | _aElbashir, Mustafa I | |
| 700 | 1 | _aIbrahim, Muntaser E | |
| 700 | 1 | _aBrice, Alexis | |
| 700 | 1 | _aAhmed, Ammar E | |
| 700 | 1 | _aStevanin, Giovanni | |
| 773 | 0 |
_tBMC medical genetics _gvol. 19 _gno. 1 _gp. 72 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/s12881-018-0592-y _zAvailable from publisher's website |
| 999 |
_c28369812 _d28369812 |
||