Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.
Baris
Hagit
H
Division of Genetics, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA.
Bejjani
Bassem A
BA
Tan
Wen-Hann
WH
Coulter
David L
DL
Martin
Judith A
JA
Storm
Andrea L
AL
Burton
Barbara K
BK
Saitta
Sulagna C
SC
Gajecka
Marzena
M
Ballif
Blake C
BC
Irons
Mira B
MB
Shaffer
Lisa G
LG
Kimonis
Virginia E
VE
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
D048868:Adaptor Proteins, Signal Transducing; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human; D011506:Proteins