TY  - GEN
AU  - Donoso,Larry A
AU  - Edwards,Albert O
AU  - Frost,Arcilee T
AU  - Ritter,Robert
AU  - Ahmad,N Nina
AU  - Vrabec,Tamara
AU  - Rogers,Jerry
AU  - Meyer,David
TI  - Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family
SN  - 0002-9394
PY  - 2002///1125
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Codon, Terminator
KW  - genetics
KW  - Cohort Studies
KW  - Collagen Type II
KW  - Connective Tissue Diseases
KW  - diagnosis
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Eye Diseases, Hereditary
KW  - Female
KW  - Genetic Linkage
KW  - Humans
KW  - Incidence
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Pedigree
KW  - Retinal Degeneration
KW  - Retinal Detachment
KW  - Sequence Analysis, DNA
KW  - Syndrome
KW  - Vitreous Body
KW  - pathology
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1016/s0002-9394(02)01638-0
ER  -