Mutations in SOX2 cause anophthalmia

Nature Genetics

Volumn 33, Issue 4, 2003, Pages 461-463

  Fantes, Judy ^a   Ragge, Nicola K ^b,c   Lynch, Sally Ann ^d   McGill, Niolette I ^a   Collin, J Richard O ^c   Howard Peebles, Patricia N ^e   Hayward, Caroline ^a   Vivian, Anthony J ^f   Williamson, Kathy ^a   Van Heyningen, Veronica ^a   FitzPatrick, David R ^a  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c MOORFIELDS EYE HOSPITAL   (United Kingdom)

^d Institute of Human Genetics   (United Kingdom)

^e GENETICS AND IVF INSTITUTE   (United States)

^f ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANOPHTHALMIA; ARTICLE; CHROMOSOME TRANSLOCATION 3; DISEASE ASSOCIATION; GENE; GENE DELETION; GENE MUTATION; HUMAN; PRIORITY JOURNAL; SOX2 GENE;

ANOPHTHALMOS; CHROMOSOMES, HUMAN, PAIR 3; CODON, NONSENSE; DATABASES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FAMILY HEALTH; FEMALE; GENE DELETION; HETEROZYGOTE; HMGB PROTEINS; HUMANS; INTRONS; MALE; MICROPHTHALMOS; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 0344953586     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1120     Document Type: Article

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