| 000 | 01379 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250513122532.0 | ||
| 264 | 0 | _c19970731 | |
| 008 | 199707s 0 0 eng d | ||
| 022 | _a0340-6717 | ||
| 024 | 7 |
_a10.1007/s004390050460 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHirschhorn, R | |
| 245 | 0 | 0 |
_aTwo newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes. _h[electronic resource] |
| 260 |
_bHuman genetics _cJul 1997 |
||
| 300 |
_a22-9 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aAdenosine _xurine |
| 650 | 0 | 4 |
_aAdenosine Deaminase _xblood |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aCOS Cells |
| 650 | 0 | 4 | _aCell Line, Transformed |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aDeoxyadenine Nucleotides _xblood |
| 650 | 0 | 4 |
_aDeoxyadenosines _xurine |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aImmunologic Deficiency Syndromes _xgenetics |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 700 | 1 | _aBorkowsky, W | |
| 700 | 1 | _aJiang, C K | |
| 700 | 1 | _aYang, D R | |
| 700 | 1 | _aJenkins, T | |
| 773 | 0 |
_tHuman genetics _gvol. 100 _gno. 1 _gp. 22-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s004390050460 _zAvailable from publisher's website |
| 999 |
_c9206211 _d9206211 |
||