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