Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

Nature Genetics

Volumn 25, Issue 4, 2000, Pages 397-401

  Ferda Percin, E ^a,b   Ploder, Lynda A ^c   Yu, Jessica J ^c   Arici, Kemal ^b   Jonathan Horsford, D ^c,d   Rutherford, Adam ^e   Bapat, Bharati ^f   Cox, Diane W ^g   Duncan, Alessandra M V ^h   Kalnins, Vitauts I ⁱ   Kocak Altintas, Aysegul ^j   Sowden, Jane C ^e   Traboulsi, Elias ^k   Sarfarazi, Mansoor ^a   McInnes, Roderick R ^c,d,i  

^a UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^b CUMHURIYET UNIVERSITY   (Turkey)

^c HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f MOUNT SINAI HOSPITAL   (Canada)

^g UNIVERSITY OF ALBERTA   (Canada)

^h MONTREAL CHILDREN S HOSPITAL   (Canada)

ⁱ UNIVERSITY OF TORONTO   (Canada)

^j ANKARA NUMUNE HOSPITAL   (Turkey)

^k LERNER RESEARCH INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GENE PRODUCT; GLUTAMINE; PROLINE; PROTEIN CHX10; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ANOPHTHALMIA; ARTICLE; CHROMOSOME 14Q; CHROMOSOME MAP; CONGENITAL BLINDNESS; CONTROLLED STUDY; EYE DEVELOPMENT; FETUS; GENE LOCUS; GENE MUTATION; HOMEOBOX; HUMAN; HUMAN TISSUE; INFANT; MAJOR CLINICAL STUDY; MALE; MICROPHTHALMIA; MOLECULAR CLONING; MOLECULAR RECOGNITION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DNA BINDING; RETINA;

ADULT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FATAL OUTCOME; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES; GENES, HOMEOBOX; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INTRONS; MALE; MICROPHTHALMOS; MIDDLE AGED; MUTATION; PEDIGREE; RETINA; TRANSCRIPTION FACTORS;

VERTEBRATA;

EID: 0034425404     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/78071     Document Type: Article

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