A novel missense mutation in the gene for gap-junction protein α3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q

Molecular Vision

Volumn 10, Issue , 2004, Pages 376-382

  Bennett, Thomas M ^a   Mackay, Donna S ^a   Knopf, Harry L S ^a   Shiels, Alan ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 46; GENOMIC DNA; LEUCINE; PROLINE; GAP JUNCTION PROTEIN; MICROSATELLITE DNA;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CATARACT; CAUCASIAN; CHILD; CHROMOSOME 13Q; CODON; CONTROLLED STUDY; FEMALE; GENE MAPPING; GENE SEQUENCE; GENETIC LINKAGE; GENOTYPE; HAPLOTYPE; HUMAN; INFANT; LEUKOCYTE; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; PEDIGREE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCORING SYSTEM; CHROMOSOME 13; CHROMOSOME MAP; DOMINANT GENE; GENETICS; NEWBORN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD;

ADOLESCENT; CATARACT; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 13; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; LINKAGE (GENETICS); LOD SCORE; MALE; MICROSATELLITE REPEATS; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 3543148924     PISSN: 10900535     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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