A novel splice site mutation in the tissue inhibitor of the metalloprateinases-3 gene in Sorsby's fundus dystrophy with unusual clinical features

Human Genetics

Volumn 103, Issue 2, 1998, Pages 179-182

  Tabata, Yoshiaki ^a   Isashiki, Yasushi ^a   Kamimura, Kousaku ^a   Nakao, Kumiko ^a   Ohba, Norio ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

TISSUE INHIBITOR OF METALLOPROTEINASE;

AGED; ARTICLE; BINDING SITE; CASE REPORT; CLINICAL FEATURE; CONSENSUS SEQUENCE; FEMALE; GENE MUTATION; HUMAN; JAPAN; MALE; MISSENSE MUTATION; ONSET AGE; PRIORITY JOURNAL; RETINA MACULA DEGENERATION;

AGED; AGED, 80 AND OVER; BINDING SITES; EXONS; FEMALE; HUMANS; INTRONS; MACULAR DEGENERATION; MALE; MUTATION; NUCLEIC ACID HETERODUPLEXES; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RNA SPLICING; TISSUE INHIBITOR OF METALLOPROTEINASE-3;

EID: 0031668129     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050803     Document Type: Article

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