✦ LIBER ✦

Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus

✍ Scribed by Jane C. Ravenscroft; Mohnish Suri; Gillian I. Rice; Marcin Szynkiewicz; Yanick J. Crow

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 122 KB
Volume: 155
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33778

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation screening in the IRF6-gene in p

Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance

✍ Stefanie Birnbaum; Heiko Reutter; Carola Lauster; Martin Scheer; Gül Schmidt; Mi 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB 👁 2 views

A novel mutation in the third extracellu

A novel mutation in the third extracellular domain of the tumor necrosis factor receptor 1 in a Finnish family with autosomal-dominant recurrent fever

✍ Hanna Nevala; Leena Karenko; Susanna Stjernberg; Maria Raatikainen; Hanna Suomal 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 358 KB 👁 1 views

A familial case of achondrogenesis type

A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and “patchy” expression in the mosaic father

✍ F. Forzano; M. Lituania; A. Viassolo; V. Superti-Furga; G. Wildhardt; B. Zabel; 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 369 KB 👁 1 views

A heterozygous novel C253Y mutation in t

A heterozygous novel C253Y mutation in the highly conserved cysteine residues of ROM1 gene is the cause of retinitis pigmentosa in a Spanish family?

✍ Carlos Reig; María Martinez-Gimeno; Miguel Carballo 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 1 views

A novel mutation in the DNA-binding doma

A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant “cerulean cataract” in an Indian family

✍ Vanita Vanita; Daljit Singh; Peter N. Robinson; Karl Sperling; Jai Rup Singh 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 386 KB 👁 3 views