Clinical and genetic analysis of pediatric @entity1 with XXXX .

@entity37824 @entity1 @entity73231 @entity73228 @entity73229 @entity73230 @entity73232 @entity920 @entity2360 @entity74 @entity4982
BACKGROUND/AIMS: @entity2360 ( @entity2360 , MIM# 277900) is an @entity74 of @entity920 transport resulting from the defective function of a @entity920 transporting P-type ATPase. Detecting mutations and single nucleotide polymorphisms (SNPs) of the @entity37824 gene in Turkish pediatric @entity2360 @entity1 (n=32) and controls (n=52) is the aim of this research. MATERIALS AND METHODS: For screening mutations and SNPs of the @entity37824 gene, sequencing was performed. RESULTS: Mutations were determined in the @entity37824 gene in 23 out of the 32 pediatric @entity1 . The mutation detection rate in the @entity37824 gene of the pediatric Turkish @entity2360 @entity1 was 71.875%. Fifteen different mutations were determined in the @entity37824 gene. These mutations were distributed throughout the @entity37824 gene and were as follows: 2 deletion, 1 insertion, 3 nonsense, and 9 missense mutations. Four of these, including @entity73228 (1 deletion) and @entity73229 , @entity73230 , and @entity73231 (3 missense) mutations, were detected in the Turkish @entity2360 @entity1 . Eleven polymorphisms were detected in both groups. Among these, @entity73232 ( @entity4982 ) was reported in the @entity2360 Mutation Database by our group. Nine out of the thirty-two pediatric Turkish @entity2360 @entity1 had no mutations in the @entity37824 gene. CONCLUSION: To find the cause of @entity2360 in pediatric @entity1 who have no mutation in @entity37824 , additional research is necessary.
