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