A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
作者： Irina V. Mersiyanova , Alexander V. Perepelov , Alexander V. Polyakov , Vladimir F. Sitnikov , Elena L. Dadali
DOI: 10.1086/302962
关键词:
摘要: … of the mutant allele, as well as the PCR product of normal homozygous DNA. The nucleotide substitution is denoted by the … Amino acids with codon numbers are indicated above the …
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