title: Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype.
abstract: Earlier reports demonstrated a key role of Cdkn1b during mouse ovarian development. In this study, the sequencing analysis of the complete coding region of this gene in a panel of premature ovarian failure patients and control subjects reveals a novel mutation potentially related to the phenotype.
authors.affiliation: Unidad de Genética, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá, Colombia.
authors.forename: Diego
authors.initials: D
authors.lastname: Ojeda
authors.forename: Besma
authors.initials: B
authors.lastname: Lakhal
authors.forename: Dora Janneth
authors.initials: DJ
authors.lastname: Fonseca
authors.forename: Rim
authors.initials: R
authors.lastname: Braham
authors.forename: Hanène
authors.initials: H
authors.lastname: Landolsi
authors.forename: Heidi Eliana
authors.initials: HE
authors.lastname: Mateus
authors.forename: Carlos Martín
authors.initials: CM
authors.lastname: Restrepo
authors.forename: Hatem
authors.initials: H
authors.lastname: Elghezal
authors.forename: Ali
authors.initials: A
authors.lastname: Saâd
authors.forename: Paul
authors.initials: P
authors.lastname: Laissue
mesh_terms: D016022:Case-Control Studies; D003105:Colombia; D050760:Cyclin-Dependent Kinase Inhibitor p27 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D010641:Phenotype; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D014416:Tunisia
chemical_list: C436291:CDKN1B protein, human; D050760:Cyclin-Dependent Kinase Inhibitor p27