Compoundheterozygousmutation相关论文
A novel compound heterozygous mutation in the ACADS gene in a Chinese family with short-chain acyl-C
Short-chain acyl-coenzyme A (CoA) dehydrogenase deficiency (SCADD) is considered a rare autosomal recessive inherited di......
MYO7A gene encodes an unconventional myosin, which is essential for well functioned hair cells of inner ear.Mutations in......
