Concepedia

Evidence that Griscelli Syndrome with Neurological Involvement Is Caused by Mutations in RAB27A, Not MYO5A

Yair Anikster, Marjan Huizing, Paul Anderson, Diana L. Fitzpatrick, Aharon Klar, Eva Gross‐Kieselstein, Yackov Berkun, Gila Shazberg, William A. Gahl, Haggit Hurvitz

The American Journal of Human Genetics · 2002 · 84 citations · 35 references

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References

35

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

Gaël Ménasché, Élodie Pastural, Jérôme Feldmann et al. · Nature Genetics · 2000 · 952 citations

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Myosin-V is a processive actin-based motor

Amit Mehta, Ronald S. Rock, Matthias Rief et al. · Nature · 1999 · 797 citations

, , +12

Identification of the homologous beige and Chediak–Higashi syndrome genes

Maria D.F.S. Barbosa, Quan A. Nguyen, Velizar T. Tchernev et al. · Nature · 1996 · 550 citations · Full text

, , +8

Identification and mutation analysis of the complete gene for Chediak–Higashi syndrome

Deborah L. Nagle, Mohammad A. Karim, Elizabeth A. Woolf et al. · Nature Genetics · 1996 · 537 citations

, , +10

Novel myosin heavy chain encoded by murine dilute coat colour locus

John A. Mercer, Peter K. Seperack, Marjorie C. Strobel et al. · Nature · 1991 · 534 citations

, , +5