000 01251 a2200421 4500
005 20250515183436.0
264 0 _c20090908
008 200909s 0 0 eng d
022 _a1432-1203
040 _aNLM
_beng
_cNLM
100 1 _aDimmock, David
245 0 0 _aNovel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.
_h[electronic resource]
260 _bHuman genetics
_cAug 2009
300 _a341 p.
_bdigital
500 _aPublication Type: Journal Article
650 0 4 _aArgininosuccinate Synthase
_xgenetics
650 0 4 _aBase Sequence
650 0 4 _aCitrullinemia
_xgenetics
650 0 4 _aCodon
650 0 4 _aDNA Mutational Analysis
650 0 4 _aHumans
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutation
650 0 4 _aNucleotides
_xgenetics
700 1 _aTrapane, Pamela
700 1 _aFeigenbaum, Annette
700 1 _aKeegan, Catherine E
700 1 _aCederbaum, Stephen
700 1 _aGibson, James
700 1 _aGambello, Michael J
700 1 _aVaux, Keith
700 1 _aWard, Patricia
700 1 _aRice, Gregory M
700 1 _aWolff, Jon A
700 1 _aO'Brien, William E
700 1 _aFang, Ping
773 0 _tHuman genetics
_gvol. 126
_gno. 2
_gp. 341
999 _c19096443
_d19096443