GATA3 haplo-insufficiency causes human HDR syndrome

Nature

Volumn 406, Issue 6794, 2000, Pages 419-422

  Van Esch, Hilde ^a   Groenen, Peter ^a   Nesbit, M Andrew ^b   Schuffenhauer, Simone ^c   Lichtner, Peter ^c   Vanderlinden, Gert ^a   Harding, Brian ^b   Beetz, Rolf ^d   Bilous, Rudolf W ^e   Holdaway, Ian ^f   Shaw, Nicholas J ^g   Fryns, Jean Pierre ^h   Van De Ven, Wim ^a   Thakker, Rajesh V ^b   Devriendt, Koenraad ^h  

^a DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF MUNICH   (Germany)

^d UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

^f AUCKLAND CITY HOSPITAL   (New Zealand)

^g BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^h UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR GATA 3; ZINC FINGER PROTEIN;

ARTICLE; CHROMOSOMAL LOCALIZATION; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; DIGEORGE SYNDROME; DNA BINDING; GENE MAPPING; GENE MUTATION; HUMAN; HYPOPARATHYROIDISM; IMMUNE DEFICIENCY; KIDNEY MALFORMATION; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; TELOMERE;

AMINO ACID SEQUENCE; ANIMALS; CHROMOSOMES, HUMAN, PAIR 10; CLONING, MOLECULAR; COS CELLS; DEAFNESS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GATA3 TRANSCRIPTION FACTOR; GENE DELETION; HUMANS; HYPOPARATHYROIDISM; KIDNEY; MALE; MICE; MOLECULAR SEQUENCE DATA; PEDIGREE; PHYSICAL CHROMOSOME MAPPING; SYNDROME; TRANS-ACTIVATORS; ZINC FINGERS;

VERTEBRATA;

EID: 0034721115     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/35019088     Document Type: Article

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