000 | 01521 a2200445 4500 | ||
---|---|---|---|
005 | 20250516110404.0 | ||
264 | 0 | _c20130214 | |
008 | 201302s 0 0 eng d | ||
022 | _a1750-1172 | ||
024 | 7 |
_a10.1186/1750-1172-7-56 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aTanner, Stephan M | |
245 | 0 | 0 |
_aInherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns. _h[electronic resource] |
260 |
_bOrphanet journal of rare diseases _cAug 2012 |
||
300 |
_a56 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural | ||
650 | 0 | 4 | _aAnemia, Megaloblastic |
650 | 0 | 4 |
_aEthnicity _xgenetics |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aFounder Effect |
650 | 0 | 4 | _aGenetic Association Studies |
650 | 0 | 4 | _aGenetic Heterogeneity |
650 | 0 | 4 | _aGenetic Testing |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aIntrinsic Factor _xgenetics |
650 | 0 | 4 |
_aMalabsorption Syndromes _xethnology |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMembrane Proteins |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aProteins _xgenetics |
650 | 0 | 4 |
_aProteinuria _xethnology |
650 | 0 | 4 |
_aVitamin B 12 _xmetabolism |
650 | 0 | 4 |
_aVitamin B 12 Deficiency _xethnology |
700 | 1 | _aSturm, Amy C | |
700 | 1 | _aBaack, Elizabeth C | |
700 | 1 | _aLiyanarachchi, Sandya | |
700 | 1 | _ade la Chapelle, Albert | |
773 | 0 |
_tOrphanet journal of rare diseases _gvol. 7 _gp. 56 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1186/1750-1172-7-56 _zAvailable from publisher's website |
999 |
_c22058884 _d22058884 |