title: Analysis of PBX1 mutations in 192 Chinese women with Müllerian duct abnormalities.
abstract: We examined the PBX1 gene in 192 Chinese women with Müllerian duct abnormalities and revealed 2 known single nucleotide polymorphisms: c.61 > A in exon 1 and c.998-1330A>G in intron 7. Future studies in large cohorts of different ethnic populations are warranted to establish definite associations between the PBX1 gene and Müllerian duct abnormalities.
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital affiliated with Shandong University, Jinan, People's Republic of China.
authors.forename: Jinlong
authors.initials: J
authors.lastname: Ma
authors.forename: Yingying
authors.initials: Y
authors.lastname: Qin
authors.forename: Wen
authors.initials: W
authors.lastname: Liu
authors.forename: Hua
authors.initials: H
authors.lastname: Duan
authors.forename: Mingdi
authors.initials: M
authors.lastname: Xia
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D044466:Asian People / Q000235:genetics*; D002681:China; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007438:Introns; D009095:Mullerian Ducts / Q000002:abnormalities*; D009154:Mutation; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D000075062:Pre-B-Cell Leukemia Transcription Factor 1; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D014564:Urogenital Abnormalities / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D000075062:Pre-B-Cell Leukemia Transcription Factor 1; D011518:Proto-Oncogene Proteins; C083400:PBX1 protein, human