Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome

Clinical Genetics

Volumn 55, Issue 2, 1999, Pages 110-117

  Booms, Patrick ^a   Cisler, Jason ^b   Mathews, Kurt R ^b   Godfrey, Maurice ^b   Tiecke, Frank ^a   Kaufmann, Ursula C ^a   Vetter, Ulrich ^a   Hagemeier, Christian ^a   Robinson, Peter N ^a,c  

^a HUMBOLDT UNIVERSITY   (Germany)

^b UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

FBN1; Fibrillin 1; Marfan syndrome; Neonatal; TGGE

Indexed keywords

FIBRILLIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; EXON; GENE MUTATION; HUMAN; INFANT; INTRON; MALE; MARFAN SYNDROME; MISSENSE MUTATION; PRIORITY JOURNAL;

EXONS; HUMANS; INFANT, NEWBORN; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION;

EID: 0033024817     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1999.550207.x     Document Type: Article

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