title: Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.
authors.affiliation: Division of Genetics, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: Hagit
authors.initials: H
authors.lastname: Baris
authors.forename: Bassem A
authors.initials: BA
authors.lastname: Bejjani
authors.forename: Wen-Hann
authors.initials: WH
authors.lastname: Tan
authors.forename: David L
authors.initials: DL
authors.lastname: Coulter
authors.forename: Judith A
authors.initials: JA
authors.lastname: Martin
authors.forename: Andrea L
authors.initials: AL
authors.lastname: Storm
authors.forename: Barbara K
authors.initials: BK
authors.lastname: Burton
authors.forename: Sulagna C
authors.initials: SC
authors.lastname: Saitta
authors.forename: Marzena
authors.initials: M
authors.lastname: Gajecka
authors.forename: Blake C
authors.initials: BC
authors.lastname: Ballif
authors.forename: Mira B
authors.initials: MB
authors.lastname: Irons
authors.forename: Lisa G
authors.initials: LG
authors.lastname: Shaffer
authors.forename: Virginia E
authors.initials: VE
authors.lastname: Kimonis
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D002648:Child; D002675:Child, Preschool; D002889:Chromosomes, Human, Pair 2; D003598:Cytoskeletal Proteins; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D008565:Membrane Proteins; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D013064:Speech Disorders / Q000175:diagnosis / Q000235:genetics
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human; D011506:Proteins