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An Autosomal Recessive Disorder

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Preview of Download Investigation and management of WD full guidance_Apr 22.pdf
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Download Investigation and management of WD full guidance_Apr 22.pdf (Investigation and management of WD full guidance_Apr 22.pdf)

584 KBSamuel ShribmanEN 67 pages
Wilson's disease is an autosomal-recessive disorder of copper metabolism with hepatic, neurological, psychiatric, and ophthalmological manifestations
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PDF (johansonblizzard-syndrome-a-report-of-genderdiscordant-twins-with-a-novel-ubr1-mutation.pdf)

496 KBEN 6 pages
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder caused by loss-of-function mutations in the UBR1 gene, characterized by exocrine
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Preview of Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects
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Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects (Sandona_Sarcoglycanopathies_molecular_pathogenesis_and_therapeutic_prospects.pdf)

1.18 MBDorianna Sandonà, Romeo BettoEN 27 pages
Sarcoglycanopathies are autosomal recessive muscle-wasting disorders caused by genetic defects in one of four cell membrane glycoproteins: a-, b-, g-, or
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دانلود رایگان مقاله انگلیسی (11233-English-IranArze.pdf)

1.57 MBShinkumaEN 10 pages
Dystrophic epidermolysis bullosa (DEB) is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen, leading to
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