DOI: 10.1055/s-00000031

Klinische Monatsblätter für Augenheilkunde

References

Khateb S, Zelinger L, Mizrahi-Meissonnier L. et al.
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.

J Med Genet 2014;
51: 460-469

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