000 01441 a2200433 4500
005 20250513033926.0
264 0 _c19950817
008 199508s 0 0 eng d
022 _a0141-8955
024 7 _a10.1007/BF00711672
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aRötig, A
245 0 0 _aDeletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome).
_h[electronic resource]
260 _bJournal of inherited metabolic disease
_c1993
300 _a527-30 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aBase Sequence
650 0 4 _aBlotting, Southern
650 0 4 _aDNA Probes
650 0 4 _aDNA, Mitochondrial
_xgenetics
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aLactates
_xmetabolism
650 0 4 _aMitochondria, Muscle
_xgenetics
650 0 4 _aMolecular Sequence Data
650 0 4 _aPolymerase Chain Reaction
650 0 4 _aPyruvates
_xmetabolism
650 0 4 _aSequence Deletion
650 0 4 _aWolfram Syndrome
_xgenetics
700 1 _aCormier, V
700 1 _aChatelain, P
700 1 _aFrancois, R
700 1 _aSaudubray, J M
700 1 _aRustin, P
700 1 _aMunnich, A
773 0 _tJournal of inherited metabolic disease
_gvol. 16
_gno. 3
_gp. 527-30
856 4 0 _uhttps://doi.org/10.1007/BF00711672
_zAvailable from publisher's website
999 _c7608881
_d7608881