✦ LIBER ✦

Two cases of wiskott–Aldrich syndrome in neonates due to gene mutations

✍ Scribed by Zhang, Shulian; Zhang, Rong; Chen, Chao; Sun, Jinqiao

Book ID: 126865180
Publisher: Informa plc
Year: 2013
Tongue: English
Weight: 244 KB
Volume: 32
Category: Article
ISSN: 1551-3815
DOI: 10.3109/15513815.2012.754530

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel mutations, no detectable mRNA and

Novel mutations, no detectable mRNA and familial genetic analysis of the Wiskott-Aldrich syndrome protein gene in six Japanese patients with Wiskott-Aldrich syndrome

✍ Sasahara, Y.; Kawai, S.; Kumaki, S.; Ohashi, Y.; Minegishi, M.; Tsuchiya, S. 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 250 KB

Identification of six novel WASP gene mu

Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome

✍ Rik A. Brooimans; Adriënne J.A.M van den Berg; Rienk Y.J. Tamminga; Tom Revesz; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 2 views

Mutation in the gene encoding the Wiskott-Aldrich Syndrome protein (WASP) has been identified as the genetic defect responsible for WAS, an X-linked primary immunodeficiency disease characterized by eczema, thrombocytopenia, and recurrent infections. In this study, the WASP gene of 7 unrelated patie

A novel termination codon mutation of th

A novel termination codon mutation of theWAS gene in a Thai family with Wiskott-Aldrich syndrome*1

✍ CHEWATAWORN, A 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 28 KB

Two novel mutations in the WASP gene in

Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E

✍ Cristina Fillat; Teresa Español; Marta Oset; Mirta Cavieres; Patricia dal Borgo; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 2 views

## Detection method: SSCA and DNA sequencing ## Detection conditions: SSCA in GeneGel Excel 12.5/24".(Pharmacia) gels in a GenePhor electrophoresis apparatus and silver staining.

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