Laminopathies

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  • Phenotypic Heterogeneity Phenotypic heterogeneity occurs when more than one phenotype is caused by allelic mutations (e.g., different mutations in the same gene) (Table 62-4). For example, laminopathies are monogenic multisystem disorders that result from mutations in the LMNA gene, which encodes the nuclear lamins A and C. Twelve autosomal dominant and four autosomal recessive disorders are caused by mutations in the LMNA gene.

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  • Human genetics is the medical field with the most rapid and, one can say, overwhelming progress. The medical practitioner constantly needs to be up-to-date on the newest developments in his field. The diversity and rapid dynamics of advancements in genetics can sometimes overcome the assimilation possibilities of one person; thus, overspecialization for narrowing and deepening the research focus is needed. Consequently, expert opinion is much valued. This book aims to provide exactly such opinions regarding several genetic diseases.

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  • Tham khảo sách 'genetic disorders', y tế - sức khoẻ, y học thường thức phục vụ nhu cầu học tập, nghiên cứu và làm việc hiệu quả

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