000 01404 a2200349 4500
005 20250517235431.0
264 0 _c20190730
008 201907s 0 0 eng d
022 _a1531-698X
024 7 _a10.1097/MOP.0000000000000686
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aMcCormick, Elizabeth M
245 0 0 _aMitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease.
_h[electronic resource]
260 _bCurrent opinion in pediatrics
_c12 2018
300 _a714-724 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
650 0 4 _aComputational Biology
_xtrends
650 0 4 _aDNA, Mitochondrial
_xgenetics
650 0 4 _aExome
_xgenetics
650 0 4 _aGenetic Association Studies
650 0 4 _aGenetic Testing
_xtrends
650 0 4 _aHigh-Throughput Nucleotide Sequencing
650 0 4 _aHumans
650 0 4 _aMitochondrial Diseases
_xdiagnosis
650 0 4 _aMolecular Diagnostic Techniques
_xtrends
650 0 4 _aMutation
650 0 4 _aPhenotype
700 1 _aZolkipli-Cunningham, Zarazuela
700 1 _aFalk, Marni J
773 0 _tCurrent opinion in pediatrics
_gvol. 30
_gno. 6
_gp. 714-724
856 4 0 _uhttps://doi.org/10.1097/MOP.0000000000000686
_zAvailable from publisher's website
999 _c28819970
_d28819970