Being the mutation in the new mutation null autosome Characteristic inferior high cholesterol

摘要

PROBLEM TO BE SOLVED: To explore a mutation of an autosomal recessive hypercholecterolemia (ARH) gene associated with the ARH.;SOLUTION: The mutation comprises the 599th to 607th nucleotides of the sixth exon of the ARH gene converted into contiguous 9 cytosines and further the 657th to 659th nucleotides converted into a stop codon. A method for screening the ARH gene having the mutation is provided. A method for diagnosing the ARH comprises judging the presence or absence of the mutation. A kit for diagnosing the ARH is provided.;COPYRIGHT: (C)2004,JPO