000 01799 a2200565 4500
005 20250516122018.0
264 0 _c20130220
008 201302s 0 0 eng d
022 _a1879-0038
024 7 _a10.1016/j.gene.2012.10.085
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aDastsooz, Hassan
245 0 0 _aA new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
_h[electronic resource]
260 _bGene
_cFeb 2013
300 _a48-53 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAdenosine Triphosphatases
_xgenetics
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aAmino Acid Sequence
650 0 4 _aAmino Acid Substitution
650 0 4 _aCation Transport Proteins
_xgenetics
650 0 4 _aChild, Preschool
650 0 4 _aCopper-Transporting ATPases
650 0 4 _aDNA Mutational Analysis
650 0 4 _aExons
650 0 4 _aFemale
650 0 4 _aFrameshift Mutation
650 0 4 _aHepatolenticular Degeneration
_xenzymology
650 0 4 _aHumans
650 0 4 _aIran
650 0 4 _aMale
650 0 4 _aMiddle Aged
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutant Proteins
_xgenetics
650 0 4 _aMutation, Missense
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aSequence Deletion
650 0 4 _aSequence Homology, Amino Acid
650 0 4 _aSpiro Compounds
650 0 4 _aYoung Adult
700 1 _aDehghani, Seyed Mohsen
700 1 _aImanieh, Mohammad Hadi
700 1 _aHaghighat, Mahmood
700 1 _aMoini, Maryam
700 1 _aFardaei, Majid
773 0 _tGene
_gvol. 514
_gno. 1
_gp. 48-53
856 4 0 _uhttps://doi.org/10.1016/j.gene.2012.10.085
_zAvailable from publisher's website
999 _c22271696
_d22271696