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Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Bibliographic reference Annunen, S ; Körkkö, J ; Czarny, M ; Warman, M L ; Brunner, H G ; et. al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.. In: American journal of human genetics, Vol. 65, no. 4, p. 974-83 (1999)
Permanent URL http://hdl.handle.net/2078.1/27106