Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change

Human Mutation

Volumn 14, Issue 5, 1999, Pages 423-427

  Hiriyanna, Kelaginamane T ^a   Bingham, Eve L ^a   Yashar, Beverly M ^a   Ayyagari, Radha ^a   Fishman, Gerald ^b   Small, Kent W ^c   Weinberg, David V ^d   Weleber, Richard G ^e   Lewis, Richard A ^f   Andreasson, Sten ^g   Richards, Julia E ^a   Sieving, Paul A ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b University of Illinois Chicago   (United States)

^c JULES STEIN EYE INSTITUTE   (United States)

^d NORTHWESTERN UNIVERSITY   (United States)

^e OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^f CULLEN EYE INSTITUTE   (United States)

^g LUND UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Leader sequence; Novel mutations; RS1; X linked juvenile retinoschisis

Indexed keywords

AMINO ACID; DISCOIDIN;

AMINO ACID SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; GENE DELETION; GENE INSERTION; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; RETINOSCHISIS; X CHROMOSOME LINKED DISORDER;

CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; EYE PROTEINS; FEMALE; GENES, RECESSIVE; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; MUTATION, MISSENSE; POINT MUTATION; PROTEIN SORTING SIGNALS; RETINAL DEGENERATION; SEQUENCE DELETION; X CHROMOSOME;

GENETTA;

EID: 0032706124     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199911)14:5<423::AID-HUMU8>3.0.CO;2-D     Document Type: Article

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