✦ LIBER ✦

A novel JAK3 mutation in a Japanese patient with severe combined immunodeficiency

✍ Scribed by Toru Uchiyama; Satoru Kumaki; Mitsuhiro Fujiwara; Yoshinobu Nishida; Ikuko Hakozaki; Kaori Imai; Wei Du; Miyako Yoshinari; Yoji Sasahara; Shigeru Tsuchiya

Book ID: 108971028
Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 260 KB
Volume: 47
Category: Article
ISSN: 1328-8067
DOI: 10.1111/j.1442-200x.2005.02103.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Eleven novel JAK3 mutations in patients

Eleven novel JAK3 mutations in patients with severe combined immunodeficiency—including the first patients with mutations in the kinase domain

✍ Patrizia Mella; Richard Fabian Schumacher; Treena Cranston; Genevieve de Saint B 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB

Defects of the JAK3-gene are known to cause an autosomal recessive form of severe combined immunodeficiency with almost absent T-cells and functionally defective B-cells (T-B+SCID). The JAK3 protein, an intracellular tyrosine kinase, is crucial for signaltransmission from the common gamma chain to t

S.64. Severe Combined Immunodeficiency A

S.64. Severe Combined Immunodeficiency Associated with a Novel IL2RG Mutation

✍ Kent Robertson; Robert Nelson; W. Scott Goebel; Darla Gowan; Kathleen Boyd; Mich 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 42 KB

A novel mutation in theADAgene causing s

A novel mutation in theADAgene causing severe combined immunodeficiency in an Arab patient: a case report

✍ Ali Hellani, Nidal Almassri, Khaled K Abu-Amero 📂 Article 📅 2009 🏛 BioMed Central 🌐 English ⚖ 742 KB

Extensive Tinea in a Patient With Severe

Extensive Tinea in a Patient With Severe Combined Immunodeficiency

✍ RAFAEL JIMÉNEZ-PUYA; C. VÁZQUEZ-BAYO; A. RODRIGUEZ-BUJALDÓN; F. GÓMEZ GARCÍA; JO 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 167 KB

A novel mutation of intron 22 in Janus k

A novel mutation of intron 22 in Janus kinase 3–deficient severe combined immunodeficiency

✍ Mjaanes, Christopher M.; Hendershot, Richard W.; Quinones, Ralph R.; Gelfand, Er 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 356 KB

A severe combined immunodeficiency mutat

A severe combined immunodeficiency mutation in the mouse

✍ Bosma, Gayle C.; Custer, R. Philip; Bosma, Melvin J. 📂 Article 📅 1983 🏛 Nature Publishing Group 🌐 English ⚖ 727 KB