| 000 | 01664 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250513093753.0 | ||
| 264 | 0 | _c19960925 | |
| 008 | 199609s 0 0 eng d | ||
| 022 | _a0148-7299 | ||
| 024 | 7 |
_a10.1002/(SICI)1096-8628(19960503)63:1<106::AID-AJMG20>3.0.CO;2-R _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRimoin, D L | |
| 245 | 0 | 0 |
_aMolecular defects in the chondrodysplasias. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics _cMay 1996 |
||
| 300 |
_a106-10 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review | ||
| 650 | 0 | 4 |
_aAdenosine Deaminase _xdeficiency |
| 650 | 0 | 4 |
_aArylsulfatases _xgenetics |
| 650 | 0 | 4 |
_aCartilage _xgrowth & development |
| 650 | 0 | 4 | _aChromosome Mapping |
| 650 | 0 | 4 | _aCloning, Molecular |
| 650 | 0 | 4 |
_aCollagen _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLysosomes _xenzymology |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMetabolism, Inborn Errors _xgenetics |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xgenetics |
| 650 | 0 | 4 | _aParathyroid Hormone-Related Protein |
| 650 | 0 | 4 |
_aPeroxisomal Disorders _xgenetics |
| 650 | 0 | 4 | _aProtein-Tyrosine Kinases |
| 650 | 0 | 4 |
_aProteins _xgenetics |
| 650 | 0 | 4 | _aReceptor, Fibroblast Growth Factor, Type 3 |
| 650 | 0 | 4 |
_aReceptors, Fibroblast Growth Factor _xgenetics |
| 650 | 0 | 4 |
_aSevere Combined Immunodeficiency _xgenetics |
| 773 | 0 |
_tAmerican journal of medical genetics _gvol. 63 _gno. 1 _gp. 106-10 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/(SICI)1096-8628(19960503)63:1<106::AID-AJMG20>3.0.CO;2-R _zAvailable from publisher's website |
| 999 |
_c8720253 _d8720253 |
||