molecular diagnosismedicine (general)biology (general)

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exome sequencing for mucolipidosis iii: detection of a novel gnptab gene mutation in a patient with a very mild phenotype

;F. Sperb-Ludwig;T. Alegra;R.V. Velho;N. Ludwig;C.A. Kim;F. Kok;J.P. Kitajima;E. van Meel;S. Kornfel...

2015 advances in skin & wound care DOI: 10.1016/j.ymgmr.2014... 231 views

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