000 | 01578 a2200481 4500 | ||
---|---|---|---|
005 | 20250513223735.0 | ||
264 | 0 | _c20001228 | |
008 | 200012s 0 0 eng d | ||
022 | _a1096-7192 | ||
024 | 7 |
_a10.1006/mgme.2000.3082 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aBusquets, C | |
245 | 0 | 0 |
_aMutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I. _h[electronic resource] |
260 |
_bMolecular genetics and metabolism _cNov 2000 |
||
300 |
_a535-7 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAmino Acid Substitution |
650 | 0 | 4 |
_aDNA _xchemistry |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 | _aGenotype |
650 | 0 | 4 |
_aGlutarates _xurine |
650 | 0 | 4 | _aGlutaryl-CoA Dehydrogenase |
650 | 0 | 4 | _aHaplotypes |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aItaly |
650 | 0 | 4 |
_aMetabolism, Inborn Errors _xenzymology |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aOxidoreductases _xgenetics |
650 | 0 | 4 | _aOxidoreductases Acting on CH-CH Group Donors |
650 | 0 | 4 | _aPolymorphism, Single-Stranded Conformational |
650 | 0 | 4 | _aPortugal |
700 | 1 | _aSoriano, M | |
700 | 1 | _ade Almeida, I T | |
700 | 1 | _aGaravaglia, B | |
700 | 1 | _aRimoldi, M | |
700 | 1 | _aRivera, I | |
700 | 1 | _aUziel, G | |
700 | 1 | _aCabral, A | |
700 | 1 | _aColl, M J | |
700 | 1 | _aRibes, A | |
773 | 0 |
_tMolecular genetics and metabolism _gvol. 71 _gno. 3 _gp. 535-7 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1006/mgme.2000.3082 _zAvailable from publisher's website |
999 |
_c11015510 _d11015510 |