Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).
Fritchie K, Siintola E, Armao D, Lehesjoki AE, Marino T, Powell C, Tennison M, Booker JM, Koch S, Partanen S, Suzuki K, Tyynelä J, Thorne LB.
Fritchie K, et al. Among authors: partanen s.
Acta Neuropathol. 2009 Feb;117(2):201-8. doi: 10.1007/s00401-008-0426-7. Epub 2008 Sep 2.
Acta Neuropathol. 2009.
PMID: 18762956