Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse

Nature Genetics

Volumn 19, Issue 2, 1998, Pages 125-133

  Dattani, Mehul T ^a   Martinez Barbera, Juan Pedro ^b   Thomas, Paul Q ^b   Brickman, Joshua M ^b   Gupta, Raj ^b   Mårtensson, Inga Lill ^c   Toresson, Håkan ^d   Fox, Margaret ^e   Wales, Jerry K H ^f   Hindmarsh, Peter C ^a   Krauss, Stefan ^g   Beddington, Rosa S P ^b   Robinson, Iain C A F ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

^c LUND UNIVERSITY   (Sweden)

^d LUND UNIVERSITY   (Sweden)

^e MEDICAL RESEARCH COUNCIL   (United Kingdom)

^f SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^g UNIVERSITY OF TROMSØ   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CENTRAL NERVOUS SYSTEM MALFORMATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HOMEOBOX; HUMAN; MICROPHTHALMIA; NONHUMAN; OPTIC NERVE DISEASE; PATHOGENESIS; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ALLELES; AMINO ACID SEQUENCE; ANIMALS; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; DNA; EMBRYONIC AND FETAL DEVELOPMENT; FEMALE; GENOTYPE; HELIX-LOOP-HELIX MOTIFS; HOMEODOMAIN PROTEINS; HUMANS; MALE; MICE; MICE, INBRED C57BL; MOLECULAR SEQUENCE DATA; MUTATION; OPEN READING FRAMES; OPTIC NERVE; PEDIGREE; PITUITARY GLAND; SEPTUM PELLUCIDUM;

EID: 17344362762     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/477     Document Type: Article

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