| 000 | 01733 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250515005642.0 | ||
| 264 | 0 | _c20060314 | |
| 008 | 200603s 0 0 eng d | ||
| 022 | _a0021-972X | ||
| 024 | 7 |
_a10.1210/jc.2005-1776 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGoji, Katsumi | |
| 245 | 0 | 0 |
_aSomatic and germline mosaicism for a mutation of the PHEX gene can lead to genetic transmission of X-linked hypophosphatemic rickets that mimics an autosomal dominant trait. _h[electronic resource] |
| 260 |
_bThe Journal of clinical endocrinology and metabolism _cFeb 2006 |
||
| 300 |
_a365-70 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aChromosomes, Human, X _xgenetics |
| 650 | 0 | 4 |
_aDNA _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFibroblast Growth Factor-23 |
| 650 | 0 | 4 |
_aFibroblast Growth Factors _xgenetics |
| 650 | 0 | 4 | _aGerm-Line Mutation |
| 650 | 0 | 4 | _aHaplotypes |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypophosphatemia, Familial _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Glycoproteins _xgenetics |
| 650 | 0 | 4 |
_aMetalloendopeptidases _xgenetics |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 | _aPHEX Phosphate Regulating Neutral Endopeptidase |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPoint Mutation |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 700 | 1 | _aOzaki, Kayo | |
| 700 | 1 | _aSadewa, Ahmad H | |
| 700 | 1 | _aNishio, Hisahide | |
| 700 | 1 | _aMatsuo, Masafumi | |
| 773 | 0 |
_tThe Journal of clinical endocrinology and metabolism _gvol. 91 _gno. 2 _gp. 365-70 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1210/jc.2005-1776 _zAvailable from publisher's website |
| 999 |
_c15927211 _d15927211 |
||