A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family

Molecular Vision

Volumn 13, Issue , 2007, Pages 1657-1665

  Guleria, Kamlesh ^a   Sperling, Karl ^b   Singh, Daljit ^c   Varon, Raymonda ^b   Singh, Jai Rup ^a   Vanita, Vanita ^a  

^a GURU NANAK DEV UNIVERSITY   (India)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c Dr Daljit Singh Eye Hospital   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CONNEXIN 46; DNA; FLUORESCENT DYE; GUANINE; LEUCINE; TYROSINE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 13Q; CODON; CONGENITAL CATARACT; CONTROLLED STUDY; DNA ISOLATION; FAMILY STUDY; FEMALE; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SCREENING; HAPLOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; INDIAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SUBSTITUTION; ARGININE; ASIAN CONTINENTAL ANCESTRY GROUP; CATARACT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 13; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GUANINE; HAPLOTYPES; HETEROZYGOTE; HUMANS; INDIA; LEUCINE; LINKAGE (GENETICS); LOD SCORE; MALE; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; THYMINE;

EID: 34548860092     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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