Senior-Løken syndrome: A syndromic form of retinal dystrophy associated with nephronophthisis

Vision Research

Volumn 75, Issue , 2012, Pages 88-97

  Ronquillo, C C ^a,b   Bernstein, P S ^b   Baehr, W ^a,b,c  

^a UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF UTAH   (United States)

Author keywords

Ciliopathy; Nephrocystins; Nephronophthisis; Primary cilium; Retinal degeneration; Senior L ken syndrome

Indexed keywords

NEPHROCYSTIN 1; NEPHROCYSTIN 10; NEPHROCYSTIN 11; NEPHROCYSTIN 12; NEPHROCYSTIN 13; NEPHROCYSTIN 2; NEPHROCYSTIN 3; NEPHROCYSTIN 4; NEPHROCYSTIN 5; NEPHROCYSTIN 6; NEPHROCYSTIN 7; NEPHROCYSTIN 8; NEPHROCYSTIN 9; REGULATOR PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOCHEMISTRY; CYTOLOGY; DISEASE MODEL; GENE; GENE LOCATION; GENE MUTATION; HUMAN; KIDNEY CELL; LEBER CONGENITAL AMAUROSIS; MEDULLARY SPONGE KIDNEY; MOLECULAR MECHANICS; NEPHROCYSTIN GENE; NEPHRONOPHTHISIS; NONHUMAN; PATHOGENESIS; PHOTORECEPTOR CELL; PRIORITY JOURNAL; PROTEIN TRANSPORT; RETINA DISEASE; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; SENIOR LOKEN SYNDROME;

EID: 84871774245     PISSN: 00426989     EISSN: 18785646     Source Type: Journal    
DOI: 10.1016/j.visres.2012.07.003     Document Type: Article

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