Farrington-Rock, Claire
Mutations in two regions of FLNB result in atelosteogenesis I and III. [electronic resource]
- Human mutation Jul 2006
- 705-10 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.20348 doi
Amino Acid Sequence
Contractile Proteins--chemistry
DNA Mutational Analysis
Exons
Female
Fetal Diseases--diagnostic imaging
Filamins
Humans
Infant
Infant, Newborn
Male
Microfilament Proteins--chemistry
Molecular Sequence Data
Mutation, Missense
Osteochondrodysplasias--diagnostic imaging
Pregnancy
Prenatal Diagnosis
Protein Structure, Tertiary
Radiography
Sequence Alignment