Park, E S

Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. [electronic resource] - American journal of medical genetics Jul 1998 - 350-5 p. digital

Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

0148-7299


Adult
Alleles
Amino Acid Substitution
Child
Contracture--genetics
Exons--genetics
Female
Fibrillin-1
Fibrillin-2
Fibrillins
Fibroblasts
Genes, Dominant
Genetic Testing
Humans
Infant
Male
Marfan Syndrome--embryology
Microfilament Proteins--genetics
Middle Aged
Mosaicism
Mutation
Polymorphism, Single-Stranded Conformational
Scoliosis