p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients
Publisher: John Wiley & Sons Inc
E-ISSN: 1399-0004|88|4|376-380
ISSN: 0009-9163
Source: CLINICAL GENETICS, Vol.88, Iss.4, 2015-10, pp. : 376-380
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Abstract