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Results 61 - 66 of 66 for Protein Z deficiency
  1. MEGDEL syndrome 
    ... in the SERAC1 gene. The function of the protein produced from this gene is not completely understood, ... MEGDEL syndrome lead to little or no SERAC1 protein function. As a result, phosphatidylglycerol remodeling is impaired, ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  2. Restless legs syndrome 
    ... Muller-Myhsok B, Meitinger T, Winkelmann J. PTPRD (protein tyrosine phosphatase receptor type delta) is associated with ... GM, Polo O, Fietze I, Ross OA, Wszolek Z, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, ...
    https://medlineplus.gov/genetics/condition/restless-legs-syndrome - Genetics
  3. Sandhoff disease 
    ... The HEXB gene provides instructions for making a protein that is part of two critical enzymes in ... PubMed Tavasoli AR, Parvaneh N, Ashrafi MR, Rezaei Z, Zschocke J, Rostami P. Clinical presentation and outcome ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  4. Congenital cataracts, facial dysmorphism, and neuropathy 
    ... weakness. The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys ... The CTDP1 gene provides instructions for making a protein called carboxy-terminal domain phosphatase 1. This protein ...
    https://medlineplus.gov/...taracts-facial-dysmorphism-and-neuropathy - Genetics
  5. Immune thrombocytopenia 
    ... and organs (autoimmunity). Normally, the immune system produces proteins called antibodies, which attach to specific foreign particles ... 875-87. doi: 10.1007/s12325-015-0251-z. Epub 2015 Oct 26. Citation on PubMed or ...
    https://medlineplus.gov/genetics/condition/immune-thrombocytopenia - Genetics
  6. Mucopolysaccharidosis type VI 
    ... may also interfere with the functions of other proteins inside lysosomes, triggering inflammation and cell death. The ... 1011-7. doi: 10.1007/s10545-005-0112-z. Citation on PubMed Clarke LA. The mucopolysaccharidoses: a ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-vi - Genetics
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