✦ LIBER ✦

Unusual deep intronic mutations in theCOL4A5gene cause X linked Alport syndrome

✍ Scribed by Kathy King; Frances A. Flinter; Vandana Nihalani; Peter M. Green

Publisher: Springer
Year: 2002
Tongue: English
Weight: 814 KB
Volume: 111
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-002-0830-3

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Detection of large deletion mutations in

Detection of large deletion mutations in theCOL4A5gene of female Alport syndrome patients

✍ Kandai Nozu; Rafal Przybyslaw Krol; Yasufumi Ohtsuka; Koichi Nakanishi; Norishig 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 220 KB

Missense mutations in the COL4A5 gene in

Missense mutations in the COL4A5 gene in patients with X-linked alport syndrome

✍ Tauro M. Neri; Paola Zanelli; Giuseppe De Palma; Mario Savi; Sandro Rossetti; Al 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 316 KB

Detection of mutations in the COL4A5 gen

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome

✍ Jens Michael Hertz; Inger Juncker; Ulf Persson; Gert Matthijs; Jörg Schmidtke; M 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 260 KB

Alport syndrome is a progressive renal disease leading to chronic renal failure, which often is accompanied by sensorineural deafness and ophthalmological signs in the form of anterior lenticonus. The X-linked form of the disease is caused by mutations in the COL4A5 gene encoding the a5-chain of typ

Detection by multiplex ligation-dependen

Detection by multiplex ligation-dependent probe amplification of large deletion mutations in theCOL4A5gene in female patients with Alport syndrome

✍ Kandai Nozu; Rafal Przybyslaw Krol; Koichi Nakanishi; Norishige Yoshikawa; Yoshi 📂 Article 📅 2009 🏛 Springer 🌐 English ⚖ 73 KB

Intronic mutations in the L1CAM gene may

Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing

✍ Christian A. Hübner; Barbara Utermann; Sigrid Tinschert; Gabriele Krüger; Bernad 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB

Communicated by Mark H. Paalman L1 disease is a clinically heterogeneous X-chromosomal neurodevelopmental disorder that is frequently associated with mental retardation and congenital hydrocephalus in males. It is caused by mutations in L1CAM that encodes a multifunctional transmembrane neuronal cel

Immunodysregulation, polyendocrinopathy,

Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: an unusual cause of proteinuria in infancy

✍ Asha Moudgil; Paige Perriello; Brett Loechelt; Ronald Przygodzki; Wendy Fitzeral 📂 Article 📅 2007 🏛 Springer 🌐 English ⚖ 153 KB