| 000 | 01474 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250515233340.0 | ||
| 264 | 0 | _c20110203 | |
| 008 | 201102s 0 0 eng d | ||
| 022 | _a1660-2137 | ||
| 024 | 7 |
_a10.1159/000319318 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aChandran, M | |
| 245 | 0 | 0 |
_aNovel PHEX gene mutation associated with X linked hypophosphatemic rickets. _h[electronic resource] |
| 260 |
_bNephron. Physiology _c2010 |
||
| 300 |
_ap17-21 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 |
_aFamilial Hypophosphatemic Rickets _xdiagnostic imaging |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Diseases, X-Linked |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aHeredity |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIndia _xethnology |
| 650 | 0 | 4 |
_aPHEX Phosphate Regulating Neutral Endopeptidase _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aRadiography |
| 650 | 0 | 4 | _aSingapore |
| 650 | 0 | 4 |
_aVitamin D Deficiency _xcomplications |
| 700 | 1 | _aChng, C L | |
| 700 | 1 | _aZhao, Y | |
| 700 | 1 | _aBee, Y M | |
| 700 | 1 | _aPhua, L Y | |
| 700 | 1 | _aClarke, B L | |
| 773 | 0 |
_tNephron. Physiology _gvol. 116 _gno. 3 _gp. p17-21 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1159/000319318 _zAvailable from publisher's website |
| 999 |
_c20004268 _d20004268 |
||