Navegação Ciências da Saúde por Assunto "X-linked disease"
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Detection of mosaic variants in mothers of MPS II patients by next generation sequencing
(2021) [Artigo de periódico]Mucopolysaccharidosis type II is an X-linked lysosomal storage disorder caused by mutations in the IDS gene that encodes the iduronate-2-sulfatase enzyme. The IDS gene is located on the long arm of the X-chromosome, ...