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Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome
Audrey McAlinden, Marja Majava, Paul N. Bishop, Rahat Perveen, Graeme C.M. Black, Mary Ella Pierpont, Leena Ala-Kokko, Minna Männikkö
Research output: Contribution to journal › Article › peer-review
45
Scopus
citations