Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family.
Donoso, Larry A
Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family. [electronic resource] - American journal of ophthalmology Nov 2002 - 720-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0002-9394
10.1016/s0002-9394(02)01638-0 doi
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
Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family. [electronic resource] - American journal of ophthalmology Nov 2002 - 720-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0002-9394
10.1016/s0002-9394(02)01638-0 doi
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