DNA variations in human and medical genetics: 25 years of my experience
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概要
Nature Publishing Group | 論文
- Association study of genetic polymorphism in ABCC4 with cyclophosphamide-induced adverse drug reactions in breast cancer patients
- Is CFTR 621+3 A>G a cystic fibrosis causing mutation?
- Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia
- Keratin 1 Gene Mutation Detected in Epidermal Nevus with Epidermolytic Hyperkeratosis
- Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity