| 000 | 01489 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250513114308.0 | ||
| 264 | 0 | _c19970626 | |
| 008 | 199706s 0 0 eng d | ||
| 022 | _a1059-7794 | ||
| 024 | 7 |
_a10.1002/(SICI)1098-1004(1997)9:4<378::AID-HUMU16>3.0.CO;2-# _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLund, A M | |
| 245 | 0 | 0 |
_aSerine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta. _h[electronic resource] |
| 260 |
_bHuman mutation _c1997 |
||
| 300 |
_a378-82 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCollagen _xanalysis |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 |
_aFibroblasts _xchemistry |
| 650 | 0 | 4 |
_aGenes _xgenetics |
| 650 | 0 | 4 |
_aGlycine _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aOsteogenesis Imperfecta _xgenetics |
| 650 | 0 | 4 | _aPeptide Mapping |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPoint Mutation _xgenetics |
| 650 | 0 | 4 |
_aSerine _xgenetics |
| 650 | 0 | 4 |
_aSkin _xcytology |
| 700 | 1 | _aSkovby, F | |
| 700 | 1 | _aSchwartz, M | |
| 773 | 0 |
_tHuman mutation _gvol. 9 _gno. 4 _gp. 378-82 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/(SICI)1098-1004(1997)9:4<378::AID-HUMU16>3.0.CO;2-# _zAvailable from publisher's website |
| 999 |
_c9083761 _d9083761 |
||