✦ LIBER ✦

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

✍ Scribed by Hsu, A. P.; Sampaio, E. P.; Khan, J.; Calvo, K. R.; Lemieux, J. E.; Patel, S. Y.; Frucht, D. M.; Vinh, D. C.; Auth, R. D.; Freeman, A. F.; Olivier, K. N.; Uzel, G.; Zerbe, C. S.; Spalding, C.; Pittaluga, S.; Raffeld, M.; Kuhns, D. B.; Ding, L.; Paulson, M. L.; Marciano, B. E.; Gea-Banacloche, J. C.; Orange, J. S.; Cuellar-Rodriguez, J.; Hickstein, D. D.; Holland, S. M.

Book ID: 121701810
Publisher: American Society of Hematology
Year: 2011
Tongue: English
Weight: 92 KB
Volume: 118
Category: Article
ISSN: 0006-4971
DOI: 10.1182/blood-2011-05-356352

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Autosomal dominant prelingual hearing lo

Autosomal dominant prelingual hearing loss with Palmoplantar Keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene

✍ Ralf Birkenhäger; Nicola Lüblinghoff; Erick Prera; Christian Schild; Antje Asche 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 187 KB 👁 2 views

A novel gene for Usher syndrome type 2:

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

✍ Inga Ebermann; Hendrik P. N. Scholl; Peter Charbel Issa; Elvir Becirovic; Jürgen 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 518 KB

2 Mutations in Epitopes Restricted By Pr

2 Mutations in Epitopes Restricted By Protective HLA A3 and HLA DRB1 0401 Alleles Are Associated with the Development of Persistent Hepatitis C Infection

✍ Petrovic, Danijela; Dempsey, Eugene; Fitzmaurice, Karen; McKiernan, Susan M.; Lo 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 64 KB

Japanese Families with Autosomal Dominan

Japanese Families with Autosomal Dominant Pure Cerebellar Ataxia Map to Chromosome 19p13.1-p13.2 and Are Strongly Associated with Mild CAG Expansions in the Spinocerebellar Ataxia Type 6 Gene in Chromosome 19p13.1

✍ K. Ishikawa; H. Tanaka; M. Saito; N. Ohkoshi; T. Fujita; K. Yoshizawa; T. Ikeuch 📂 Article 📅 1997 🏛 American Society of Human Genetics 🌐 English ⚖ 136 KB