MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: Loss of mutant protein function in transfected cells

Investigative Ophthalmology and Visual Science

Volumn 45, Issue 5, 2004, Pages 1456-1463

  McHenry, Christina L ^a   Liu, Yuhui ^b   Feng, Wei ^b   Nair, Anita R ^a   Feathers, Kecia L ^a   Ding, Xiaoling ^a   Gal, Andreas ^c   Vollrath, Douglas ^b   Sieving, Paul A ^d   Thompson, Debra A ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d NATIONAL EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; MUTANT PROTEIN; RECOMBINANT PROTEIN; MERTK PROTEIN, HUMAN; MERTK PROTEIN, RAT; ONCOPROTEIN; PROTEIN TYROSINE KINASE; TYROSINE;

ALLELE; AMINO ACID ANALYSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL FUNCTION; CONTROLLED STUDY; EXON; GENE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MERTK GENE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PHOSPHORYLATION; PROTEIN STABILITY; RESIDUE ANALYSIS; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; ROD CONE DYSTROPHY; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; ADOLESCENT; FEMALE; GENE EXPRESSION REGULATION; GENETIC TRANSFECTION; GENETIC VARIABILITY; GENETICS; KIDNEY; METABOLISM; PATHOLOGY; PHOSPHORYLATION; PHOTORECEPTOR; PHYSIOLOGY; PRENATAL DEVELOPMENT; RETINA DEGENERATION; WESTERN BLOTTING;

ADOLESCENT; ARGININE; BLOTTING, WESTERN; CYSTEINE; FEMALE; GENE EXPRESSION REGULATION; HUMANS; KIDNEY; MUTATION, MISSENSE; PHOSPHORYLATION; PHOTORECEPTORS, VERTEBRATE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTO-ONCOGENE PROTEINS; RECEPTOR PROTEIN-TYROSINE KINASES; RETINAL DEGENERATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSFECTION; TYROSINE; VARIATION (GENETICS);

EID: 2442670631     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.03-0909     Document Type: Article

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