Mutations in two regions of FLNB result in atelosteogenesis I and III. [electronic resource]
Producer: 20060807Description: 705-10 p. digitalISSN:- 1098-1004
- 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
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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