A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen
Published in: Human Molecular Genetics
Date of publication: September 1996
Language: English
Main subject: Collagen type XI alpha 1 chain, visual perception, Stickler syndrome, Stickler syndrome type 2
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