MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome by Kyttälä Mira, Tallila Jonna, Salonen Riitta, Kopra Outi, Kohlschmidt Nicolai, Paavola-Sakki Paulina, Peltonen Leena, Kestilä Marjo in Nature genetics (2006).

[PMID: 16415886] PubMed

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