Mutational screening of Indian families with hereditary congenital cataract

Molecular Vision

Volumn 19, Issue , 2013, Pages 1141-1148

  Ponnam, Surya Prakash Goud ^a,b   Ramesha, Kekkunaya ^a   Matalia, Jyoti ^a,c   Tejwani, Sushma ^a,c   Ramamurthy, Balasubramanya ^a,d   Kannabiran, Chitra ^a  

^a L V PRASAD EYE INSTITUTE   (India)

^b TEZPUR UNIVERSITY   (India)

^c Narayana Health City   (India)

^d ARAVIND EYE HOSPITAL   (India)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 46; CONNEXIN 50; GAP JUNCTION PROTEIN; GENOMIC DNA; METHIONINE; PROLINE; PROTEIN GJA8; SERINE; UNCLASSIFIED DRUG; VALINE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CONGENITAL CATARACT; CONTROLLED STUDY; DNA EXTRACTION; DNA FLANKING REGION; EYE EXAMINATION; FAMILY STUDY; FEMALE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GJA3 GENE; GJA8 GENE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; INDIA; INDIAN; INFANT; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUTATION RATE; MUTATIONAL ANALYSIS; NEWBORN; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; CATARACT; CONNEXINS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FAMILY; FEMALE; GENETIC TESTING; HUMANS; INDIA; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE;

EID: 84878440090     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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