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http://purl.uniprot.org/citations/28988223http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/28988223http://www.w3.org/2000/01/rdf-schema#comment"

Background

Precocious puberty is known as an idiopathic, sporadic disease. Recently, specific mutations have been shown to cause familial central precocious puberty (CPP). The makorin ring finger 3 (MKRN3) gene plays a key role in puberty; loss-of-function mutations in the gene trigger familial CPP. To date, most described patients have been Western; few Asians with CPP have been documented.

Objective

To identify MKRN3 gene mutations or polymorphisms in Korean patients with familial CPP.

Methods

26 patients with CPP and their parents (total 13 families) were recruited. We measured endocrine and auxological parameters, and sequenced all MKRN3 exons.

Results

We found no MKRN3 mutations. Two MKRN3 exon polymorphisms were identified. The g.23566445 C/T polymorphism was found in eight families; a novel single nucleotide polymorphism (SNP) g.23567001 A/C was found in one family. These variants are synonymous SNPs; their functional roles remain unknown.

Conclusions

MKRN3 mutation is uncommon in Korean patients with familial CPP. Ethnic variation in the MKRN3 mutational status is thus evident."xsd:string
http://purl.uniprot.org/citations/28988223http://purl.org/dc/terms/identifier"doi:10.1515/jpem-2016-0471"xsd:string
http://purl.uniprot.org/citations/28988223http://purl.uniprot.org/core/author"Lee H.S."xsd:string
http://purl.uniprot.org/citations/28988223http://purl.uniprot.org/core/author"Hwang J.S."xsd:string
http://purl.uniprot.org/citations/28988223http://purl.uniprot.org/core/author"Jeong H.R."xsd:string
http://purl.uniprot.org/citations/28988223http://purl.uniprot.org/core/date"2017"xsd:gYear
http://purl.uniprot.org/citations/28988223http://purl.uniprot.org/core/name"J Pediatr Endocrinol Metab"xsd:string
http://purl.uniprot.org/citations/28988223http://purl.uniprot.org/core/pages"1197-1201"xsd:string
http://purl.uniprot.org/citations/28988223http://purl.uniprot.org/core/title"Makorin ring finger 3 gene analysis in Koreans with familial precocious puberty."xsd:string
http://purl.uniprot.org/citations/28988223http://purl.uniprot.org/core/volume"30"xsd:string
http://purl.uniprot.org/citations/28988223http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/28988223
http://purl.uniprot.org/citations/28988223http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/28988223
http://purl.uniprot.org/uniprot/#_Q13064-mappedCitation-28988223http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/28988223
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http://purl.uniprot.org/uniprot/Q13064http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/28988223
http://purl.uniprot.org/uniprot/Q6NSB6http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/28988223