Gene: [02q13/NPHP1] src homology 3 domain containing protein NPHP1; nephronophthisis 1 (juvenile); medullary cystic kidney disease (autosomal recessive);

CAG

Another locus for nephronophthisis is mapped: GEM:09q/NPHP2.

REF

LIN,LOC "Antignac C &: Nature Genet, 3, 342-345, 1993
LIN,LOC "Antignac C &: CCG, 58, (HGM11), 2109, 1991
LIN,LOC "Hildebrandt F &: Genomics, 25, 360-364, 1995
LIN,LOC "Hildebrandt F &: AJHG, 53, 1256-1261, 1993
LIN,LOC "Medhioub M &: Genomics, 22, 296-301, 1994
CLO,SEQ,DOM,ASS,PAT "Saunier S &: Hum Mol Genet, 6, N13, 2317-2323, 1997
LIN,LOC "Spurr NK &: CCG, 67, 215-244, 1994

KEY

ren

CLA

coding, basic

LOC

02 q13

MIM

MIM: 256100