Dissecting the molecular mechanisms in craniofrontonasal syndrome: Differential mRNA expression of mutant EFNB1 and the cellular mosaic

European Journal of Human Genetics

Volumn 16, Issue 2, 2008, Pages 184-191

  Wieland, Ilse ^a   Makarov, Roman ^a   Reardon, William ^b   Tinschert, Sigrid ^c,d   Goldenberg, Alice ^e   Thierry, Patrick ^f   Wieacker, Peter ^a,g  

^a OTTO VON GUERICKE UNIVERSITY   (Germany)

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^c DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e HÔPITAL CHARLES NICOLLE   (France)

^f Centre Hospitalier Intercommunal de la Haute Saone   (France)

^g UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EPHRIN B1; MESSENGER RNA;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CODON; CRANIOFACIAL MALFORMATION; CRANIOFRONTONASAL SYNDROME; DIAPHRAGM HERNIA; EXON; FEMALE; FIBROBLAST; FRAMESHIFT MUTATION; GENE EXPRESSION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; MISSENSE MUTATION; MOLECULAR GENETICS; MOSAICISM; MUTANT; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; WILD TYPE; X CHROMOSOME INACTIVATION;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CELLS, CULTURED; CHILD; CODON, NONSENSE; CRANIOFACIAL ABNORMALITIES; EPHRIN-B1; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; RANDOM ALLOCATION; RNA SPLICE SITES; RNA, MESSENGER; SYNDROME;

EID: 38349143424     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201968     Document Type: Article

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