LEBER CONGENITAL AMAUROSIS 1; LCA1

Literature (2)

Literature for OMIM 204000: LEBER CONGENITAL AMAUROSIS 1; LCA1

Xenbase Articles:
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Denotes literature images)

Genetic and physical interaction between the NPHP5 and NPHP6 gene products., Schäfer T,Pütz M,Lienkamp S,Ganner A,Bergbreiter A,Ramachandran H,Gieloff V,Gerner M,Mattonet C,Czarnecki PG,Otto EA,Hildebrandt F,Kramer-Zucker A,Walz G,Sayer JA, Hum Mol Genet. December 1, 2008; 17(23):1460-2083.
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome., Johnston JJ,Lee C,Lee C,Lee C,Wentzensen IM,Crenshaw MM,Sapp JC,Gross JM,Wallingford JB,Biesecker LG,Parisi MA, Cold Spring Harb Mol Case Stud. July 1, 2017; 3(4):2373-2873.

Genetic and physical interaction between the NPHP5 and NPHP6 gene products., Schäfer T,Pütz M,Lienkamp S,Ganner A,Bergbreiter A,Ramachandran H,Gieloff V,Gerner M,Mattonet C,Czarnecki PG,Otto EA,Hildebrandt F,Kramer-Zucker A,Walz G,Sayer JA, Hum Mol Genet. December 1, 2008; 17(23):1460-2083.