| 000 | 01462 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250513071925.0 | ||
| 264 | 0 | _c19940308 | |
| 008 | 199403s 0 0 eng d | ||
| 022 | _a0002-9297 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWallis, G A | |
| 245 | 0 | 0 |
_aAmino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cFeb 1994 |
||
| 300 |
_a169-78 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 |
_aAmino Acids _xgenetics |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCollagen _xgenetics |
| 650 | 0 | 4 | _aConserved Sequence |
| 650 | 0 | 4 | _aDNA |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aRash, B | |
| 700 | 1 | _aSweetman, W A | |
| 700 | 1 | _aThomas, J T | |
| 700 | 1 | _aSuper, M | |
| 700 | 1 | _aEvans, G | |
| 700 | 1 | _aGrant, M E | |
| 700 | 1 | _aBoot-Handford, R P | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 54 _gno. 2 _gp. 169-78 |
|
| 999 |
_c8303616 _d8303616 |
||