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1. 成人の家族性高コレステロール血症：概要familial hypercholesterolemia in adults overview [show details]
… category who have a genetic variant of LDLR or APOB, but it is in a region coding for a domain, which is not known to be critical for ligand binding or completion… Familial defective apo B-100 is an autosomal dominant disorder that,…
2. 遺伝性運動失調の概要overview of the hereditary ataxias [show details]
…often by genetic testing. The hereditary ataxias have traditionally been divided into two main classes: Ataxia caused by underlying inborn errors of metabolism; these disorders usually are inherited in an …
3. 遺伝性皮膚疾患：概要the genodermatoses an overview [show details]
… endothelin-B receptor (EDNRB) or its ligand endothelin-B (EDN3) or heterozygous mutation in the SOX10 gene . Neurocutaneous genetic disorders,… dominant disorder in which cell proliferation and migration of neural crest-derived melanoblasts are defective. This leads to an abnormal distribution of melanocytes during embryogenesis and results in patchy …
4. 原発性免疫不全症における悪性腫瘍malignancy in primary immunodeficiency [show details]
… may result in malignant formation due to defective tumor surveillance . CD40 ligand (CD40L) is a molecule expressed by CD4+… is impaired genetic stability caused by defective DNA repair . Ataxia-telangiectasia (AT) and Nijmegen breakage syndrome (NBS) are the best known examples of PIDs involving defective DNA repair .…
5. 自己免疫性リンパ増殖症候群(ALPS)：臨床的特徴および診断autoimmune lymphoproliferative syndrome alps clinical features and diagnosis [show details]
…lymphocyte counts; Defective lymphocyte apoptosis (assay repeated at least once) Somatic or germline pathogenic mutations in FAS, FASLG, or CASP10; Elevated plasma levels of soluble Fas ligand (FasL), interleukin …

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