✦ LIBER ✦

A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene

✍ Scribed by Karolien Beel; Melanie M. Cotter; Jan Blatny; Jonathan Bond; Geoff Lucas; Frances Green; Vik Vanduppen; Daisy W. Leung; Sean Rooney; Owen P. Smith; Michael K. Rosen; Peter Vandenberghe

Book ID: 108676028
Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 147 KB
Volume: 144
Category: Article
ISSN: 0007-1048
DOI: 10.1111/j.1365-2141.2008.07416.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

X-linked thrombocytopenia caused by a mu

X-linked thrombocytopenia caused by a mutation in the Wiskott-Aldrich syndrome (WAS) gene that disrupts interaction with the WAS protein (WASP)-interacting protein (WIP)

✍ Jennifer N Luthi; Manish J Gandhi; Jonathan G Drachman 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 325 KB

A novel mutation of the WAS gene in a pa

A novel mutation of the WAS gene in a patient with Wiskott-Aldrich syndrome presenting with recalcitrant viral warts

✍ Kim, Jin Ki; Yoon, Moon Soo; Huh, Ji Young; Kim, Hee-Jin; Kim, Dong Hyun 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 329 KB

Characterization of a deletion mutation

Characterization of a deletion mutation involving exons 3–7 of the WASP gene detected in a patient with Wiskott-Aldrich syndrome

✍ Tadashi Ariga; Masafumi Yamada; Sukeyuki Ito; Mika Iwamura; Mikiro Iseki; Yukio 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 326 KB 👁 2 views

A case of Wiskott-Aldrich syndrome (WAS) suspected to have a deletion mutation in the WAS protein (WASP) gene had previously been reported (Ariga et al., 1997). Genomic polymerase chain reaction (PCR) suggested that exons 3-7 of the WASP gene were included in the deletion. Present Southern blot stud

Clinical Aspects and Genetic Analysis of

Clinical Aspects and Genetic Analysis of Taiwanese Patients with Wiskott–Aldrich Syndrome Protein Mutation: The First Identification of X-Linked Thrombocytopenia in the Chinese with Novel Mutations

✍ Wen-I Lee; Jing-Long Huang; Tang-Her Jaing; Kang-Hsi Wu; Yin-Hsiu Chien; Kuei-We 📂 Article 📅 2010 🏛 Springer 🌐 English ⚖ 309 KB

A Novel Aminoterminal Mutation in the KA

A Novel Aminoterminal Mutation in the KAL-1 Gene in a Large Pedigree with X-Linked Kallmann Syndrome

✍ Wen-Xia Gu; James S. Colquhoun-Kerr; Peter Kopp; Hans H. Bode; J.Larry Jameson 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 74 KB

A new mutation of the ALAS2 gene in a la

A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia

✍ Emmanuel Prades; Cécile Chambon; Tamara A. Dailey; Harry A. Dailey; Jean Brière; 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 568 KB