| 000 | 01860 a2200601 4500 | ||
|---|---|---|---|
| 005 | 20250515155914.0 | ||
| 264 | 0 | _c20090925 | |
| 008 | 200909s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.2008.063321 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCrimella, C | |
| 245 | 0 | 0 |
_aPoint mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cMay 2009 |
||
| 300 |
_a345-51 p. _bdigital |
||
| 500 | _aPublication Type: Letter; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAgenesis of Corpus Callosum |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aDNA Mutational Analysis _xmethods |
| 650 | 0 | 4 |
_aDNA, Intergenic _xgenetics |
| 650 | 0 | 4 | _aFamily Health |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Frequency |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 |
_aProteins _xgenetics |
| 650 | 0 | 4 | _aSequence Deletion |
| 650 | 0 | 4 | _aSequence Homology, Amino Acid |
| 650 | 0 | 4 |
_aSpastic Paraplegia, Hereditary _xgenetics |
| 700 | 1 | _aArnoldi, A | |
| 700 | 1 | _aCrippa, F | |
| 700 | 1 | _aMostacciuolo, M L | |
| 700 | 1 | _aBoaretto, F | |
| 700 | 1 | _aSironi, M | |
| 700 | 1 | _aD'Angelo, M Grazia | |
| 700 | 1 | _aManzoni, S | |
| 700 | 1 | _aPiccinini, L | |
| 700 | 1 | _aTurconi, A C | |
| 700 | 1 | _aToscano, A | |
| 700 | 1 | _aMusumeci, O | |
| 700 | 1 | _aBenedetti, S | |
| 700 | 1 | _aFazio, R | |
| 700 | 1 | _aBresolin, N | |
| 700 | 1 | _aDaga, A | |
| 700 | 1 | _aMartinuzzi, A | |
| 700 | 1 | _aBassi, M T | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 46 _gno. 5 _gp. 345-51 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.2008.063321 _zAvailable from publisher's website |
| 999 |
_c18641196 _d18641196 |
||