| 000 | 01869 a2200601 4500 | ||
|---|---|---|---|
| 005 | 20250513213456.0 | ||
| 264 | 0 | _c20001016 | |
| 008 | 200010s 0 0 eng d | ||
| 022 | _a1018-4813 | ||
| 024 | 7 |
_a10.1038/sj.ejhg.5200475 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWeber, S | |
| 245 | 0 | 0 |
_aFamilial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cJun 2000 |
||
| 300 |
_a414-22 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 |
_aCalcium _xurine |
| 650 | 0 | 4 | _aChromosome Mapping |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 3 |
| 650 | 0 | 4 | _aClaudins |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHaplotypes |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMagnesium _xblood |
| 650 | 0 | 4 |
_aMagnesium Deficiency _xblood |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNephrocalcinosis _xcomplications |
| 650 | 0 | 4 | _aPedigree |
| 700 | 1 | _aHoffmann, K | |
| 700 | 1 | _aJeck, N | |
| 700 | 1 | _aSaar, K | |
| 700 | 1 | _aBoeswald, M | |
| 700 | 1 | _aKuwertz-Broeking, E | |
| 700 | 1 | _aMeij, I I | |
| 700 | 1 | _aKnoers, N V | |
| 700 | 1 | _aCochat, P | |
| 700 | 1 | _aSuláková, T | |
| 700 | 1 | _aBonzel, K E | |
| 700 | 1 | _aSoergel, M | |
| 700 | 1 | _aManz, F | |
| 700 | 1 | _aSchaerer, K | |
| 700 | 1 | _aSeyberth, H W | |
| 700 | 1 | _aReis, A | |
| 700 | 1 | _aKonrad, M | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 8 _gno. 6 _gp. 414-22 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/sj.ejhg.5200475 _zAvailable from publisher's website |
| 999 |
_c10829318 _d10829318 |
||