000 01593 a2200493 4500
005 20250517124430.0
264 0 _c20170502
008 201705s 0 0 eng d
022 _a1471-2350
024 7 _a10.1186/s12881-016-0347-6
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aHanley, Alan
245 0 0 _aMutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families.
_h[electronic resource]
260 _bBMC medical genetics
_cNov 2016
300 _a83 p.
_bdigital
500 _aPublication Type: Journal Article
650 0 4 _aAmino Acids
_xgenetics
650 0 4 _aCardiomyopathy, Dilated
_xdiagnostic imaging
650 0 4 _aDNA
_xchemistry
650 0 4 _aDNA Mutational Analysis
650 0 4 _aDeath, Sudden, Cardiac
_xetiology
650 0 4 _aElectrocardiography
650 0 4 _aFemale
650 0 4 _aGenotype
650 0 4 _aHigh-Throughput Nucleotide Sequencing
650 0 4 _aHomeobox Protein Nkx-2.5
_xgenetics
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aPedigree
650 0 4 _aPhenotype
650 0 4 _aPolymorphism, Single Nucleotide
700 1 _aWalsh, Katie A
700 1 _aJoyce, Caroline
700 1 _aMcLellan, Michael A
700 1 _aClauss, Sebastian
700 1 _aHagen, Amaya
700 1 _aShea, Marisa A
700 1 _aTucker, Nathan R
700 1 _aLin, Honghuang
700 1 _aFahy, Gerard J
700 1 _aEllinor, Patrick T
773 0 _tBMC medical genetics
_gvol. 17
_gno. 1
_gp. 83
856 4 0 _uhttps://doi.org/10.1186/s12881-016-0347-6
_zAvailable from publisher's website
999 _c26611931
_d26611931