Article
p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients.
Clinical genetics - 1 Oct 2015
Pasqualim G, Ribeiro M G, da Fonseca G G G, Szlago M, Schenone A, Lemes A, Rojas M V M, Matte U, Giugliani R
Abstract excerpt
Mucopolysaccharidosis type I is a rare autosomal recessive disorder caused by deficiency of α-l-iduronidase (IDUA) which leads to a wide spectrum of clinical severity. Here, we describe the case of four male patients who present the previously undescribed p.L18P mutation. Patient 1 (p.L18P/p.L18P) presents, despite multiple joint contractures, an attenuated phenotype. Patient 2 (p.L18P/p.W402X) was diagnosed at...
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