Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis

Journal of Medical Genetics

Volumn 50, Issue 4, 2013, Pages 246-254

  Soler, Vincent José ^a,b   Tran Viet, Khanh Nhat ^a   Galiacy, Stéphane D ^b   Limviphuvadh, Vachiranee ^c   Klemm, Thomas Patrick ^d   St Germain, Elizabeth ^a   Fournié, Pierre R ^b,e   Guillaud, Céline ^b,e   Maurer Stroh, Sebastian ^c,f   Hawthorne, Felicia ^a   Suarez, Cyrielle ^b,e   Kantelip, Bernadette ^g   Afshari, Natalie A ^h   Creveaux, Isabelle ⁱ   Luo, Xiaoyan ^a   Meng, Weihua ^b   Calvas, Patrick ^b   Cassagne, Myriam ^b,e   Arné, Jean Louis ^e   Rozen, Steven G ^d   Malecaze, François ^b,e   Young, Terri L ^a,h   more..

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b France   (France)

^c BIOINFORMATICS INSTITUTE   (Singapore)

^d Singapore Graduate Medical School   (Singapore)

^e CHU PURPAN   (France)

^f NANYANG TECHNOLOGICAL UNIVERSITY   (Singapore)

^g UNIVERSITY HOSPITAL OF BESANÇON   (France)

^h DUKE UNIVERSITY EYE CENTER   (United States)

ⁱ UNIVERSITÉ CLERMONT AUVERGNE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE; MEMBRANE PROTEIN; NLRP1 PROTEIN; NUCLEOTIDE; UNCLASSIFIED DRUG;

ADULT; ALLELE; AMINO ACID SEQUENCE; APOPTOSIS; ARTICLE; AUTOIMMUNE DISEASE; BILATERAL COMPLETE CORNEAL OPACIFICATION; BIOPSY; BLOOD SAMPLING; CAUCASIAN; CHROMOSOME 17P; CHROMOSOME 4Q; CONTROLLED STUDY; CORNEA DISEASE; CORNEAL INTRAEPITHELIAL DYSKERATOSIS; DATA BASE; DISEASE ASSOCIATION; DYSKERATOSIS; EXOME SEQUENCING; EYE DISEASE; FEMALE; FETUS; FRANCE; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENE INSERTION; GENE PRODUCT; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC PARAMETERS; GENETIC POLYMORPHISM; GENETIC SCREENING; GENETIC VARIABILITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFLAMMATION; KERATINIZATION; LARYNGEAL DYSKERATOSIS; LARYNX DISORDER; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PALMOPLANTAR KERATODERMA; PHENOTYPE; PHYLOGENY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN STRUCTURE; QUANTITATIVE ANALYSIS; SEQUENCE ANALYSIS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; APOPTOSIS REGULATORY PROTEINS; CHILD; CORNEAL KERATOCYTES; DYSKERATOSIS CONGENITA; EPITHELIUM, CORNEAL; EXOME; FEMALE; GENE FREQUENCY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84878888852     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101325     Document Type: Article

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