The N1317H substitution associated with leber congenital amaurosis results in impaired interdomain packing in human CRB1 epidermal growth factor-like (EGF) domains

Journal of Biological Chemistry

Volumn 282, Issue 39, 2007, Pages 28807-28814

  Davis, Jason A ^a,b   Handford, Penny A ^a   Redfield, Christina ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACIDS; CALCIUM; GROWTH KINETICS; PROTEINS; SUBSTITUTION REACTIONS;

AMINO ACID SUBSTITUTIONS; DISEASE-CAUSING SUBSTITUTIONS;

GENETIC ENGINEERING;

EPIDERMAL GROWTH FACTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CALCIUM BINDING; DROSOPHILA; LEBER CONGENITAL AMAUROSIS; NONHUMAN; NUCLEAR MAGNETIC RESONANCE; NUCLEOTIDE SEQUENCE; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN STRUCTURE;

AMINO ACID SUBSTITUTION; BLINDNESS; CALCIUM; EPIDERMAL GROWTH FACTOR; EYE PROTEINS; HUMANS; MEMBRANE PROTEINS; NERVE TISSUE PROTEINS; OPTIC ATROPHY, HEREDITARY, LEBER; PROTEIN BINDING; PROTEIN FOLDING; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 35348992596     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M704015200     Document Type: Article

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