Sökning: "Mucopolysaccharidosis type II MPS II"
Hittade 1 avhandling innehållade orden Mucopolysaccharidosis type II MPS II.
1. Genomic rearrangements at the cause of three genetic disorders in man
Sammanfattning : Genomic rearrangements are a common cause of genetic disorders in man. This thesis describes the analysis of genomic rearrangements observed in patients with the Hunter syndrome (MPS II), incontinentia pigmenti (IP) and the Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). MPS II is an X-linked recessive lysosomal storage disorder. LÄS MER
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