| 000 | 01531 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250515031329.0 | ||
| 264 | 0 | _c20060726 | |
| 008 | 200607s 0 0 eng d | ||
| 022 | _a0022-3476 | ||
| 024 | 7 |
_a10.1016/j.jpeds.2006.01.031 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWhyte, Michael P | |
| 245 | 0 | 0 |
_aHomozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry. _h[electronic resource] |
| 260 |
_bThe Journal of pediatrics _cJun 2006 |
||
| 300 |
_a753-8 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Review | ||
| 650 | 0 | 4 |
_aBlack or African American _xgenetics |
| 650 | 0 | 4 |
_aAlkaline Phosphatase _xgenetics |
| 650 | 0 | 4 |
_aArginine _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCysteine _xgenetics |
| 650 | 0 | 4 | _aElectrophoresis, Gel, Two-Dimensional |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypophosphatasia _xepidemiology |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 |
_aIsoenzymes _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPrevalence |
| 650 | 0 | 4 | _aRNA Splice Sites |
| 700 | 1 | _aEssmyer, Kevan | |
| 700 | 1 | _aGeimer, Michael | |
| 700 | 1 | _aMumm, Steven | |
| 773 | 0 |
_tThe Journal of pediatrics _gvol. 148 _gno. 6 _gp. 753-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.jpeds.2006.01.031 _zAvailable from publisher's website |
| 999 |
_c16364665 _d16364665 |
||