Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

O.T. Betsalel, J.M. van de Kamp, C. Martinez-Munoz, E.H. Rosenberg, A.P.M. de Brouwer, P.J.W. Pouwels, M.S. van der Knaap, G.M.S. Mancini, C.A.J.M. Jakobs, B.C.J. Hamel, G.S. Salomons

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    Medicine & Life Sciences