| 000 | 01316 a2200373 4500 | ||
|---|---|---|---|
| 005 | 20250515094618.0 | ||
| 264 | 0 | _c20080229 | |
| 008 | 200802s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/j.1399-0004.2007.00926.x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLund, Am | |
| 245 | 0 | 0 |
_aA novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype. _h[electronic resource] |
| 260 |
_bClinical genetics _cJan 2008 |
||
| 300 |
_a97-101 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Letter | ||
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCollagen Type I _xchemistry |
| 650 | 0 | 4 | _aCollagen Type I, alpha 1 Chain |
| 650 | 0 | 4 |
_aEhlers-Danlos Syndrome _xgenetics |
| 650 | 0 | 4 | _aFamily |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aOsteogenesis Imperfecta _xgenetics |
| 650 | 0 | 4 | _aProtein Structure, Secondary |
| 700 | 1 | _aJoensen, F | |
| 700 | 1 | _aChristensen, E | |
| 700 | 1 | _aDunø, M | |
| 700 | 1 | _aSkovby, F | |
| 700 | 1 | _aSchwartz, M | |
| 773 | 0 |
_tClinical genetics _gvol. 73 _gno. 1 _gp. 97-101 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1399-0004.2007.00926.x _zAvailable from publisher's website |
| 999 |
_c17544453 _d17544453 |
||