Mutations in a new gene, encoding a zinc-finger protein, cause tricho- rhino-phalangeal syndrome type I

Nature Genetics

Volumn 24, Issue 1, 2000, Pages 71-74

  Momeni, Parastoo ^a   Glöckner, Gernot ^b   Schmidt, Olaf ^a   Von Holtum, Diane ^a   Albrecht, Beate ^a   Gillessen Kaesbach, Gabriele ^a   Hennekam, Raoul ^c   Meinecke, Peter ^d   Zabel, Bernhard ^e   Rosenthal, André ^b   Horsthemke, Bernhard ^a   Lüdecke, Hermann Josef ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b FRITZ LIPMANN INSTITUTE   (Germany)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d Altonaer Kinderkrankenhaus   (Germany)

^e UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 8Q; CHROMOSOME BREAKAGE; CRANIOFACIAL MALFORMATION; EXON; GENE DELETION; GENE MAPPING; GENE MUTATION; HUMAN; NONSENSE MUTATION; NUCLEAR LOCALIZATION SIGNAL; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; SKELETON MALFORMATION;

BLOTTING, NORTHERN; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 8; DNA, COMPLEMENTARY; FEMALE; HUMANS; LANGER-GIEDION SYNDROME; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OPEN READING FRAMES; PEDIGREE; ZINC FINGERS;

EID: 0342316531     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/71717     Document Type: Article

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