000 01616 a2200469 4500
005 20250512023029.0
264 0 _c19860416
008 198604s 0 0 eng d
022 _a0140-6736
024 7 _a10.1016/s0140-6736(86)92811-4
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aDunger, D B
245 0 0 _aDeletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.
_h[electronic resource]
260 _bLancet (London, England)
_cMar 1986
300 _a585-7 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aAdrenal Insufficiency
_xgenetics
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aChromosome Banding
650 0 4 _aChromosome Deletion
650 0 4 _aDNA
_xanalysis
650 0 4 _aGlycerol
_xblood
650 0 4 _aGlycerol Kinase
_xdeficiency
650 0 4 _aHumans
650 0 4 _aIntellectual Disability
_xcomplications
650 0 4 _aMale
650 0 4 _aMuscular Dystrophies
_xgenetics
650 0 4 _aPhosphotransferases
_xdeficiency
650 0 4 _aSex Chromosome Aberrations
_xgenetics
650 0 4 _aTriglycerides
_xblood
650 0 4 _aX Chromosome
700 1 _aDavies, K E
700 1 _aPembrey, M
700 1 _aLake, B
700 1 _aPearson, P
700 1 _aWilliams, D
700 1 _aWhitfield, A
700 1 _aDillon, M J
773 0 _tLancet (London, England)
_gvol. 1
_gno. 8481
_gp. 585-7
856 4 0 _uhttps://doi.org/10.1016/s0140-6736(86)92811-4
_zAvailable from publisher's website
999 _c2875151
_d2875151