| 000 | 01325 a2200373 4500 | ||
|---|---|---|---|
| 005 | 20250511230225.0 | ||
| 264 | 0 | _c19901106 | |
| 008 | 199011s 0 0 eng d | ||
| 022 | _a0009-9163 | ||
| 024 | 7 |
_a10.1111/j.1399-0004.1990.tb03565.x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLegius, E | |
| 245 | 0 | 0 |
_aSporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion. _h[electronic resource] |
| 260 |
_bClinical genetics _cAug 1990 |
||
| 300 |
_a155-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAmino Acid Metabolism, Inborn Errors _xgenetics |
| 650 | 0 | 4 |
_aAmmonia _xblood |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 | _aDNA Probes |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 |
_aOrnithine Carbamoyltransferase _xgenetics |
| 650 | 0 | 4 | _aOrnithine Carbamoyltransferase Deficiency Disease |
| 650 | 0 | 4 | _aRestriction Mapping |
| 700 | 1 | _aBaten, E | |
| 700 | 1 | _aStul, M | |
| 700 | 1 | _aMarynen, P | |
| 700 | 1 | _aCassiman, J J | |
| 773 | 0 |
_tClinical genetics _gvol. 38 _gno. 2 _gp. 155-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1399-0004.1990.tb03565.x _zAvailable from publisher's website |
| 999 |
_c2214890 _d2214890 |
||