A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene

Molecular Vision

Volumn 13, Issue , 2007, Pages 797-803

  Guleria, Kamlesh ^a   Vanita, Vanita ^a   Singh, Daljit ^b   Singh, Jai Rup ^a  

^a GURU NANAK DEV UNIVERSITY   (India)

^b Dr Daljit Singh Eye Hospital   (India)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 46; CYSTEINE; METHIONINE; RESTRICTION ENDONUCLEASE; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL EXAMINATION; CONGENITAL CATARACT; CONTROLLED STUDY; ENZYME ANALYSIS; ETHNICITY; FAMILY HISTORY; FAMILY SIZE; FAMILY STUDY; GENE AMPLIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HUMAN CELL; INDIAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; BASE SEQUENCE; CATARACT; CONNEXINS; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LENS, CRYSTALLINE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT;

EID: 34250003488     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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