Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

Human Molecular Genetics

Volumn 11, Issue 1, 2002, Pages 33-42

  Jamieson, Robyn V ^a,b   Perveen, Rahat ^a   Kerr, Bronwyn ^c   Carette, Martin ^a   Yardley, Jill ^d   Heon, Elise ^e   Wirth, M Gabriela ^f   Van Heyningen, Veronica ^g   Donnai, Di ^a   Munier, Francis ^h   Black, Graeme C M ^a,d  

^a ST MARY S HOSPITAL   (United Kingdom)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^d MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f ROYAL CHILDREN'S HOSPITAL   (Australia)

^g WESTERN GENERAL HOSPITAL   (United Kingdom)

^h LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; LEUCINE ZIPPER PROTEIN; PROLINE; TRANSCRIPTION FACTOR MAF; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANTERIOR EYE SEGMENT; ARTICLE; CHROMOSOME 16Q; CHROMOSOME 5P; CHROMOSOME TRANSLOCATION 16; CHROMOSOME TRANSLOCATION 5; COMORBIDITY; CONGENITAL CATARACT; CONTROLLED STUDY; DNA BINDING MOTIF; EMBRYO; EYE DEVELOPMENT; EYE MALFORMATION; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GERM LINE; HUMAN; HYPOTHESIS; INFANT; IRIS COLOBOMA; LENS; MAMMAL; MICROPHTHALMIA; MOLECULAR CLONING; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; ONCOGENE; PHENOTYPE; PRIORITY JOURNAL; VERTEBRATE;

MAMMALIA; VERTEBRATA;

EID: 0036156544     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/11.1.33     Document Type: Article

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