| 000 | 01549 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250517185741.0 | ||
| 264 | 0 | _c20180119 | |
| 008 | 201801s 0 0 eng d | ||
| 022 | _a2324-9269 | ||
| 024 | 7 |
_a10.1002/mgg3.333 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMajumdar, Ramanath | |
| 245 | 0 | 0 |
_aAllelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria. _h[electronic resource] |
| 260 |
_bMolecular genetics & genomic medicine _c11 2017 |
||
| 300 |
_a795-799 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 |
_aAmmonia-Lyases _xgenetics |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 |
_aGlutamate Formimidoyltransferase _xdeficiency |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMetabolism, Inborn Errors _xdiagnosis |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aOpen Reading Frames _xgenetics |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 700 | 1 | _aYori, Andrew | |
| 700 | 1 | _aRush, Peggy W | |
| 700 | 1 | _aRaymond, Kimiyo | |
| 700 | 1 | _aGavrilov, Dimitar | |
| 700 | 1 | _aTortorelli, Silvia | |
| 700 | 1 | _aMatern, Dietrich | |
| 700 | 1 | _aRinaldo, Piero | |
| 700 | 1 | _aFeldman, Gerald L | |
| 700 | 1 | _aOglesbee, Devin | |
| 773 | 0 |
_tMolecular genetics & genomic medicine _gvol. 5 _gno. 6 _gp. 795-799 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/mgg3.333 _zAvailable from publisher's website |
| 999 |
_c27828284 _d27828284 |
||