(Q52999067)
Statements
A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype. (English)
P Booms
A P Withers
M Boxer
U C Kaufmann
C Hagemeier
U Vetter
1 August 1997
100
2
195-200