Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

Nature Genetics

Volumn 26, Issue 3, 2000, Pages 319-323

  Bech Hansen, N Torben ^a   Naylor, Margaret J ^a   Maybaum, Tracy A ^a   Sparkes, Rebecca L ^a   Koop, Ben ^b   Birch, David G ^c   Bergen, Arthur A B ^d   Prinsen, Clemens F M ^a   Polomeno, Robert C ^e   Gal, Andreas ^f   Drack, Arlene V ^g   Musarella, Maria A ^h   Jacobson, Samuel G ⁱ   Young, Rockefeller S L ^j   Weleber, Richard G ^k  

^a UNIVERSITY OF CALGARY   (Canada)

^b UNIVERSITY OF VICTORIA   (Canada)

^c RETINA FOUNDATION OF THE SOUTHWEST   (United States)

^d NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^e MCGILL UNIVERSITY   (Canada)

^f UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^g EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h SUNY DOWNSTATE MEDICAL CENTER   (United States)

ⁱ UNIVERSITY OF PENNSYLVANIA   (United States)

^j TEXAS TECH UNIVERSITY   (United States)

^k OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

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Author keywords

[No Author keywords available]

Indexed keywords

PROTEOGLYCAN;

ARTICLE; CLINICAL ARTICLE; DISEASE ACTIVITY; ELECTRORETINOGRAM; GENE MUTATION; GENETIC LINKAGE; HUMAN; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

ADULT; AMINO ACID MOTIFS; AMINO ACID SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EXPRESSED SEQUENCE TAGS; EYE PROTEINS; GENE EXPRESSION PROFILING; GENES; GLYCOSYLPHOSPHATIDYLINOSITOLS; HUMANS; INTERNEURONS; KIDNEY; LEUCINE; MALE; MOLECULAR SEQUENCE DATA; NIGHT BLINDNESS; ORGAN SPECIFICITY; PEDIGREE; PROTEOGLYCANS; REPETITIVE SEQUENCES, AMINO ACID; RETINA; RETINAL GANGLION CELLS; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SYNAPTIC TRANSMISSION; VISION; X CHROMOSOME;

EID: 0033757466     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/81619     Document Type: Article

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