Mutation of the start codon in the FRDA1 gene: linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor

1998 ◽  
Vol 103 (1) ◽  
pp. 102-105 ◽  
Author(s):  
C. Zühlke ◽  
Franco Laccone ◽  
Mireille Cossée ◽  
Alfried Kohlschütter ◽  
Michel Koenig ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Common Ancestor ◽  
Start Codon ◽  
Gene Linkage

scholarly journals Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome

2011 ◽  
Vol 44 (8) ◽  
pp. 793-800
Author(s):  
L.V.S. Teixeira ◽  
K.L. Mandelbaum ◽  
L.V. Pereira ◽  
A.B.A. Perez
Keyword(s):  
Linkage Analysis ◽  
Candidate Gene ◽  
Marfan Syndrome ◽  
Genetic Heterogeneity ◽  
Gene Linkage

A new start-codon in IFITM5 causes osteogenesis imperfecta type V

2013 ◽  
Author(s):  
Semler Oliver ◽  
Hoyer-Kuhn Heike ◽  
Garbes Lutz ◽  
Netzer Christian ◽  
Schoenau Eckhard
Keyword(s):  
Osteogenesis Imperfecta ◽  
Start Codon ◽  
Osteogenesis Imperfecta Type ◽  
Type V
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