000 | 01539 a2200421 4500 | ||
---|---|---|---|
005 | 20250515012426.0 | ||
264 | 0 | _c20060206 | |
008 | 200602s 0 0 eng d | ||
022 | _a0007-1048 | ||
024 | 7 |
_a10.1111/j.1365-2141.2005.05852.x _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aAkagi, Reiko | |
245 | 0 | 0 |
_aDual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. _h[electronic resource] |
260 |
_bBritish journal of haematology _cJan 2006 |
||
300 |
_a237-43 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 |
_aCoproporphyria, Hereditary _xdiagnosis |
650 | 0 | 4 |
_aCoproporphyrinogen Oxidase _xgenetics |
650 | 0 | 4 |
_aDNA Mutational Analysis _xmethods |
650 | 0 | 4 |
_aDNA, Complementary _xgenetics |
650 | 0 | 4 |
_aErythrocytes _xenzymology |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aModels, Molecular |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 |
_aPorphobilinogen Synthase _xdeficiency |
700 | 1 | _aInoue, Rikako | |
700 | 1 | _aMuranaka, Shikibu | |
700 | 1 | _aTahara, Tsuyoshi | |
700 | 1 | _aTaketani, Shigeru | |
700 | 1 | _aAnderson, Karl E | |
700 | 1 | _aPhillips, John D | |
700 | 1 | _aSassa, Shigeru | |
773 | 0 |
_tBritish journal of haematology _gvol. 132 _gno. 2 _gp. 237-43 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1365-2141.2005.05852.x _zAvailable from publisher's website |
999 |
_c16016068 _d16016068 |