| 000 | 02539 a2200829 4500 | ||
|---|---|---|---|
| 005 | 20250515043334.0 | ||
| 264 | 0 | _c20061204 | |
| 008 | 200612s 0 0 eng d | ||
| 022 | _a0002-9297 | ||
| 024 | 7 |
_a10.1086/508294 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHrebícek, Martin | |
| 245 | 0 | 0 |
_aMutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cNov 2006 |
||
| 300 |
_a807-19 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAcetyltransferases _xchemistry |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aCell Line |
| 650 | 0 | 4 | _aChromosome Mapping |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 8 _xgenetics |
| 650 | 0 | 4 | _aCloning, Molecular |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aDNA, Complementary _xgenetics |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Expression |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMice |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMucopolysaccharidosis III _xenzymology |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 |
_aRecombinant Fusion Proteins _xgenetics |
| 650 | 0 | 4 | _aSequence Homology, Amino Acid |
| 650 | 0 | 4 | _aTransfection |
| 700 | 1 | _aMrázová, Lenka | |
| 700 | 1 | _aSeyrantepe, Volkan | |
| 700 | 1 | _aDurand, Stéphanie | |
| 700 | 1 | _aRoslin, Nicole M | |
| 700 | 1 | _aNosková, Lenka | |
| 700 | 1 | _aHartmannová, Hana | |
| 700 | 1 | _aIvánek, Robert | |
| 700 | 1 | _aCízkova, Alena | |
| 700 | 1 | _aPoupetová, Helena | |
| 700 | 1 | _aSikora, Jakub | |
| 700 | 1 | _aUrinovská, Jana | |
| 700 | 1 | _aStranecký, Viktor | |
| 700 | 1 | _aZeman, Jirí | |
| 700 | 1 | _aLepage, Pierre | |
| 700 | 1 | _aRoquis, David | |
| 700 | 1 | _aVerner, Andrei | |
| 700 | 1 | _aAusseil, Jérome | |
| 700 | 1 | _aBeesley, Clare E | |
| 700 | 1 | _aMaire, Irène | |
| 700 | 1 | _aPoorthuis, Ben J H M | |
| 700 | 1 | _avan de Kamp, Jiddeke | |
| 700 | 1 | _avan Diggelen, Otto P | |
| 700 | 1 | _aWevers, Ron A | |
| 700 | 1 | _aHudson, Thomas J | |
| 700 | 1 | _aFujiwara, T Mary | |
| 700 | 1 | _aMajewski, Jacek | |
| 700 | 1 | _aMorgan, Kenneth | |
| 700 | 1 | _aKmoch, Stanislav | |
| 700 | 1 | _aPshezhetsky, Alexey V | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 79 _gno. 5 _gp. 807-19 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1086/508294 _zAvailable from publisher's website |
| 999 |
_c16610377 _d16610377 |
||