| 000 | 00944 a2200313 4500 | ||
|---|---|---|---|
| 005 | 20250515020117.0 | ||
| 264 | 0 | _c20060321 | |
| 008 | 200603s 0 0 eng d | ||
| 022 | _a0340-6717 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBerna, L | |
| 245 | 0 | 0 |
_aGene symbol: ARSA. Disease: metachromatic leukodystrophy. _h[electronic resource] |
| 260 |
_bHuman genetics _cDec 2005 |
||
| 300 |
_a537 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 |
_aCerebroside-Sulfatase _xgenetics |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLeukodystrophy, Metachromatic _xgenetics |
| 650 | 0 | 4 | _aMutation, Missense |
| 700 | 1 | _aGieselmann, V | |
| 700 | 1 | _aPoupetova, H | |
| 700 | 1 | _aHrebicek, M | |
| 700 | 1 | _aElleder, M | |
| 700 | 1 | _aLedvinova, J | |
| 773 | 0 |
_tHuman genetics _gvol. 118 _gno. 3-4 _gp. 537 |
|
| 999 |
_c16130956 _d16130956 |
||