The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

Comeglio, Paolo

The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. [electronic resource] - Human mutation Sep 2007 - 928 p. digital

Publication Type: Journal Article

1098-1004

10.1002/humu.9505 doi


Adolescent
Adult
Age Distribution
Aged
Aged, 80 and over
Child
Child, Preschool
DNA Mutational Analysis
Female
Fibrillin-1
Fibrillins
Genetic Testing
Humans
Infant
Infant, Newborn
Marfan Syndrome--classification
Microfilament Proteins--genetics
Middle Aged
Mutation
Pregnancy
Prenatal Diagnosis