✦ LIBER ✦

A further Turkish case of Griscelli syndrome with new RAB27A mutation

✍ Scribed by Huseyin Onay; Can Balkan; Ozgur Cogulu; Yesim Aydinok; Deniz Yılmaz Karapinar; Ferda Ozkinay

Book ID: 116583231
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 143 KB
Volume: 58
Category: Article
ISSN: 1097-6787
DOI: 10.1016/j.jaad.2007.05.002

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations in RAB27A cause Griscelli synd

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

✍ de Saint Basile, Geneviève; Ménasché, Gaël; Pastural, Elodie; Feldmann, Jérôme; 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 208 KB

Mutations in RAB27A cause Griscelli synd

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

✍ de Saint Basile, Geneviève; Ménasché, Gaël; Pastural, Elodie; Feldmann, Jérôme; 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 208 KB

Functional characterization of two RAB27

Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2

✍ Norihiko Ohbayashi; Setareh Mamishi; Koutaro Ishibashi; Yuto Maruta; Babak Poura 📂 Article 📅 2010 🏛 Wiley (Blackwell Publishing) 🌐 English ⚖ 991 KB

Novel RAB27A Mutation Distinguishes Hypo

Novel RAB27A Mutation Distinguishes Hypopigmentation From Cytotoxic Dysfunction in Griscelli Syndrome Type 2

✍ Chan, Sanny K.; Banerjee, Pinaki; Noroski, Lenora Mendoza; Monaco-Shawver, Linda 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 42 KB

Evidence that Griscelli Syndrome with Ne

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

✍ Yair Anikster; Marjan Huizing; Paul D. Anderson; Diana L. Fitzpatrick; Aharon Kl 📂 Article 📅 2002 🏛 American Society of Human Genetics 🌐 English ⚖ 315 KB

Griscelli syndrome without hemophagocyto

Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: Expanding the phenotypic spectrum of Rab27A mutations in humans

✍ Güzide Aksu; Necil Kütükçüler; Ferah Genel; Canan Vergin; Benjamin Omowaire 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 64 KB 👁 2 views