Concepedia

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene

Marco Seri, Domenico Bordo, Roberto Cusano, Bianca Rocca, Ilaria Meloni, Filomena Di Bari, Pasi A. Koivisto, Martino Bolognesi, Gian Marco Ghiggeri, Raffaele Landolfi,

Human Genetics · 2001 · 52 citations · 11 references

DOI

Concepts

References

11

Nomenclature for the description of human sequence variations

JT den Dunnen, Stylianos E. Antonarakis · Human Genetics · 2001 · 905 citations

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Crystal Structure of a Vertebrate Smooth Muscle Myosin Motor Domain and Its Complex with the Essential Light Chain

Roberto Domínguez, Yelena Freyzon, Kathleen M. Trybus et al. · Cell · 1998 · 639 citations · Full text

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The HUGO Gene Nomenclature Committee (HGNC)

Sue Povey, Ruth C. Lovering, Elspeth A. Bruford et al. · Human Genetics · 2001 · 527 citations

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Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes

The May-Hegglin Fechtner Syndrome Consortium · Nature Genetics · 2000 · 448 citations

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Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly

Michael J. Kelley, William Jawien, Thomas L. Ortel et al. · Nature Genetics · 2000 · 261 citations

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