An FBN1 Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?

Human Mutation

Volumn 35, Issue 5, 2014, Pages 571-574

  Gillis, Elisabeth ^a   Kempers, Marlies ^b   Salemink, Simone ^b   Timmermans, Janneke ^b   Cheriex, Emile C ^c   Bekkers, Sebastiaan C A M ^c   Fransen, Erik ^a   De Die Smulders, Christine E M ^c   Loeys, Bart L ^a,b   Laer, Lut Van ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Deep intronic mutation; FBN1; Marfan syndrome; Pseudo exon

Indexed keywords

COMPLEMENTARY DNA; FIBRILLIN 1; GENOMIC DNA; ACTIN BINDING PROTEIN; FIBRILLIN;

ARTICLE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SPLICING; DONOR SITE; EXON; FAMILIAL DISEASE; GENE MUTATION; GENE SEQUENCE; GENOME; INTRON; LINKAGE ANALYSIS; MARFAN SYNDROME; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONSENSE MEDIATED MRNA DECAY; POINT MUTATION; PRIORITY JOURNAL; STOP CODON; ADULT; AGED; GENETICS; HUMAN; MALE; MIDDLE AGED; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD;

ADULT; AGED; CHILD, PRESCHOOL; EXONS; HUMANS; INTRONS; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; PEDIGREE; POINT MUTATION;

EID: 84898803550     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22540     Document Type: Article

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