Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin

Human Genetics

Volumn 112, Issue 2, 2003, Pages 110-116

  Baird, Paul N ^a,b   Craig, Jamie E ^a   Richardson, Andrea J ^a   Ring, Maree A ^c   Sim, Pamela ^b   Stanwix, Sue ^c   Foote, Simon J ^b   Mackey, David A ^b,c  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b ROYAL MELBOURNE HOSPITAL   (Australia)

^c UNIVERSITY OF TASMANIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; MYOCILIN; CYTOSKELETON PROTEIN; EYE PROTEIN; GLYCOPROTEIN; LEUCINE ZIPPER PROTEIN; MICROSATELLITE DNA; PRIMER DNA; TRABECULAR MESHWORK-INDUCED GLUCOCORTICOID RESPONSE PROTEIN;

ARTICLE; AUSTRALIA; FAMILY; FOUNDER EFFECT; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HUMAN; MICROSATELLITE MARKER; OPEN ANGLE GLAUCOMA; PEDIGREE ANALYSIS; PRIORITY JOURNAL; ALLELE; CHEMISTRY; COMPARATIVE STUDY; EXON; FEMALE; GENETIC LINKAGE; GENETICS; MALE; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; STOP CODON;

ALLELES; CODON, TERMINATOR; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; EYE PROTEINS; FEMALE; FOUNDER EFFECT; GLAUCOMA, OPEN-ANGLE; GLUTAMINE; GLYCOPROTEINS; HAPLOTYPES; HUMANS; LEUCINE ZIPPERS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; SOUTH AUSTRALIA;

EID: 0037316171     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0865-5     Document Type: Article

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