The mutation spectrum of the bestrophin protein - Functional implications

Human Genetics

Volumn 104, Issue 5, 1999, Pages 383-389

  Bakall, Benjamin ^a   Marknell, Towa ^a   Ingvast, Sofie ^a   Koisti, Markus J ^a   Sandgren, Ola ^b   Li, Wen ^c   Bergen, Arthur A B ^d   Andreasson, Sten ^e   Rosenberg, Tomas ^f   Petrukhin, Konstantin ^c   Wadelius, Claes ^a  

^a UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^b UMEÅ UNIVERSITY HOSPITAL   (Sweden)

^c MERCK RESEARCH LABORATORIES   (United States)

^d NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^e LUND UNIVERSITY HOSPITAL   (Sweden)

^f National Eye Clinic for the Visually Impaired Denmark   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

BESTROPHIN; LIPOFUSCIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CAENORHABDITIS ELEGANS; CHROMOSOME 11Q; CHROMOSOME MAP; CLINICAL ARTICLE; DENMARK; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC RECOMBINATION; HUMAN; MISSENSE MUTATION; MOROCCO; NETHERLANDS; NONSENSE MUTATION; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; RETINA MACULA VITELLIFORM DEGENERATION; SWEDEN;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; CAENORHABDITIS ELEGANS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; CONFIDENCE INTERVALS; DNA PRIMERS; EXONS; EYE PROTEINS; HUMANS; MACULAR DEGENERATION; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTEIN CONFORMATION; RECOMBINATION, GENETIC; REFERENCE VALUES; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0033057221     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050972     Document Type: Article

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