Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family. [electronic resource]
Producer: 20021125Description: 720-7 p. digitalISSN:- 0002-9394
- Adolescent
- Adult
- Child
- Child, Preschool
- Codon, Terminator -- genetics
- Cohort Studies
- Collagen Type II -- genetics
- Connective Tissue Diseases -- diagnosis
- DNA Mutational Analysis
- Exons
- Eye Diseases, Hereditary -- genetics
- Female
- Genetic Linkage
- Humans
- Incidence
- Male
- Middle Aged
- Mutation
- Pedigree
- Retinal Degeneration -- diagnosis
- Retinal Detachment -- diagnosis
- Sequence Analysis, DNA
- Syndrome
- Vitreous Body -- pathology
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
There are no comments on this title.
Log in to your account to post a comment.