Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract

Molecular Vision

Volumn 18, Issue , 2012, Pages 174-180

  Weisschuh, Nicole ^a   Aisenbrey, Sabine ^b   Wissinger, Bernd ^a   Riess, Angelika ^c  

^a Institute for Ophthalmic Research   (Germany)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c Institute of Human Genetics   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BETA CRYSTALLIN A4 GENE; BETA CRYSTALLIN B1 GENE; BETA CRYSTALLIN B2 GENE; BETA CRYSTALLIN B3 GENE; CHROMOSOME 22; CONGENITAL CATARACT; CONTROLLED STUDY; GENE; GENE CLUSTER; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; MISSENSE MUTATION; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; BETA-CRYSTALLIN A CHAIN; BETA-CRYSTALLIN B CHAIN; CASE-CONTROL STUDIES; CATARACT; CHROMOSOMES, HUMAN, PAIR 22; CROATIA; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENETIC LINKAGE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE;

EID: 84856807635     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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