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Night blindness, congenital stationary, type 1C; CSNB1C

Disease ID:692
Name:Night blindness, congenital stationary, type 1C; CSNB1C
Associated with:1 target
Synonyms
Congenital stationary night blindness
Database Links
Disease Ontology: DOID:0050534
OMIM: 613216
Orphanet: ORPHA215

Targets

TRPM1
References:  1-4
Mutations:  TRPM1 is associated with 19 mutation. Click here for details

Ligands

No ligand related data available for Night blindness, congenital stationary, type 1C; CSNB1C

References

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1. Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M et al.. (2009) TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am. J. Hum. Genet., 85 (5): 720-9. [PMID:19896113]

2. Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR. (2009) Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. Am. J. Hum. Genet., 85 (5): 711-9. [PMID:19878917]

3. Nakamura M, Sanuki R, Yasuma TR, Onishi A, Nishiguchi KM, Koike C, Kadowaki M, Kondo M, Miyake Y, Furukawa T. (2010) TRPM1 mutations are associated with the complete form of congenital stationary night blindness. Mol. Vis., 16: 425-37. [PMID:20300565]

4. van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA et al.. (2009) Mutations in TRPM1 are a common cause of complete congenital stationary night blindness. Am. J. Hum. Genet., 85 (5): 730-6. [PMID:19896109]