Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy

Iranian biomedical journal（2018）

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摘要

This study expands the mutation spectrum of LAMA2 and assists in the diagnosis, genetic counseling, and prenatal diagnosis of the affected families.

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关键词

Creatine kinase,Genetic counseling,Mutation,Reverse transcriptase polymerase chain reaction

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