Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing

Molecular Vision

Volumn 19, Issue , 2013, Pages 384-389

  Kondo, Yukiko ^a   Saitsu, Hirotomo ^a   Miyamoto, Toshinobu ^b   Lee, Byung Joo ^c   Nishiyama, Kiyomi ^a   Nakashima, Mitsuko ^a   Tsurusaki, Yoshinori ^a   Doi, Hiroshi ^a   Miyake, Noriko ^a   Kim, Jeong Hun ^c   Yu, Young Suk ^c   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b ASAHIKAWA MEDICAL COLLEGE   (Japan)

^c Seoul National University College of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ARTICLE; CLINICAL ARTICLE; CONGENITAL CATARACT; CONTROLLED STUDY; CORNEA DISEASE; CRYAA GENE; CRYAC GENE; CRYAG GENE; FAMILY; FAMILY PLANNING; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GENETIC PROCEDURES; GENETIC VARIABILITY; HUMAN; MALE; MICROCORNEA; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTH KOREA; STOP CODON; WHOLE EXOME SEQUENCING;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CATARACT; CODON, NONSENSE; CRYSTALLINS; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; FRAMESHIFT MUTATION; GAMMA-CRYSTALLINS; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; PEDIGREE; REPUBLIC OF KOREA; SEQUENCE DELETION;

EID: 84874352389     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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