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White, SL, Shanske, S, Biros, I, Warwick, L, Dahl, HM, Thorburn, DR, Di Mauro, S.
Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA..
Prenat Diagn
19(12)
:
1165 -1168
1999
view publication
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White, SL, Shanske, S, McGill, JJ, Mountain, H, Geraghty, MT, DiMauro, S, Dahl, HH, Thorburn, DR.
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation..
J Inherit Metab Dis
22(8)
:
899 -914
1999
view publication
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Dahl, HH, Osborn, AH, Hutchison, WM, Thorburn, DR, Sheffield, LJ.
Late diagnosis of maternal PKU in a family segregating an arylsulfatase [corrected] E mutation causing symmetrical chondrodysplasia punctata..
Mol Genet Metab
68(4)
:
503 -506
1999
view publication
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FitzPatrick, DR, Hill, A, Tolmie, JL, Thorburn, DR, Christodoulou, J.
The molecular basis of malonyl-CoA decarboxylase deficiency..
Am J Hum Genet
65(2)
:
318 -326
1999
view publication
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White, SL, Collins, VR, Wolfe, R, Cleary, MA, Shanske, S, DiMauro, S, Dahl, HH, Thorburn, DR.
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993..
Am J Hum Genet
65(2)
:
474 -482
1999
view publication