Gene: [02q13/NPHP1] src homology 3 domain containing protein NPHP1; nephronophthisis 1 (juvenile); medullary cystic kidney disease (autosomal recessive);
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CAG |
Another locus for nephronophthisis is mapped: GEM:09q/NPHP2. |
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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 |
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KEY |
ren |
|
CLA |
coding, basic |
|
LOC |
02 q13 |
|
MIM |
MIM: 256100 |
