The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function

BMC Medical Genetics

Volumn 11, Issue 1, 2010, Pages

  Makarov, Roman ^a   Steiner, Bernhard ^b   Gucev, Zoran ^c   Tasic, Velibor ^c   Wieacker, Peter ^d   Wieland, Ilse ^a  

^a UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

^d UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EPHRIN B1; EPHRIN; EPHRIN RECEPTOR;

ANIMAL CELL; ARTICLE; CELL CULTURE; CELL FUNCTION; COMPLEX FORMATION; CONTROLLED STUDY; CRANIOFRONTONASAL SYNDROME; DNA SEQUENCE; FIBROBLAST; FRAMESHIFT MUTATION; GENE CONSTRUCT; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; INTRON; MISSENSE MUTATION; MOLECULAR RECOGNITION; MULTIPLE MALFORMATION SYNDROME; MUTATIONAL ANALYSIS; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PROTEIN DOMAIN; PROTEIN PHOSPHORYLATION; PROTEIN SYNTHESIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION; SITE DIRECTED MUTAGENESIS; SPLICE SITE MUTATION; WESTERN BLOTTING; WILD TYPE; BIOSYNTHESIS; CRANIOFACIAL SYNOSTOSIS; EXON; FEMALE; GENETICS; HETEROZYGOTE; MALE; METABOLISM; MUTATION; RNA SPLICING; STOP CODON; SYNDROME; X CHROMOSOME INACTIVATION;

CODON, NONSENSE; CRANIOSYNOSTOSES; EPHRIN-B1; EPHRINS; EXONS; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION; MUTATION, MISSENSE; RECEPTORS, EPH FAMILY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; SYNDROME; X CHROMOSOME INACTIVATION;

EID: 77953572250     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-11-98     Document Type: Article

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