✦ LIBER ✦

Insertional Mutation of the Collagen Genes Col4a3 and Col4a4 in a Mouse Model of Alport Syndrome

✍ Scribed by Wei Lu; Carrie L. Phillips; Paul D. Killen; Tommy Hlaing; Wilbur R. Harrison; F.F.B. Elder; Jeffrey H. Miner; Paul A. Overbeek; Miriam H. Meisler

Book ID: 115614869
Publisher: Elsevier Science
Year: 1999
Tongue: English
Weight: 675 KB
Volume: 61
Category: Article
ISSN: 0888-7543
DOI: 10.1006/geno.1999.5943

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel COL4A5, COL4A4, and COL4A3 mutatio

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome

✍ Mato Nagel; Sylvia Nagorka; Oliver Gross 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 78 KB

This study summarizes 47 novel mutations identified during routine molecular diagnostics for Alport syndrome. We detected 34 in COL4A5, the gene responsible for X-linked Alport syndrome, and 13 in COL4A3 and COL4A4, the genes responsible for autosomal recessive Alport syndrome. A high detection rate

A COL4A3 gene mutation and post-transpla

A COL4A3 gene mutation and post-transplant anti-α3(IV) collagen alloantibodies in Alport syndrome

✍ Kalluri, Raghu; van den Heuvel, L P; Smeets, H J M; Schroder, C H; Lemmink, H H; 📂 Article 📅 1995 🏛 Nature Publishing Group 🌐 English ⚖ 639 KB

Autosomal-dominant Alport syndrome: Natu

Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene

✍ Pescucci, Chiara; Mari, Francesca; Longo, Ilaria; Vogiatzi, Paraskevi; Caselli, 📂 Article 📅 2004 🏛 Nature Publishing Group 🌐 English ⚖ 162 KB

Identification of a single base insertio

Identification of a single base insertion in the COL4A5 gene in Alport syndrome

✍ Nakazato, Hitoshi; Hattori, Shinzaburo; Matsuura, Toshinobu; Koitabashi, Yasushi 📂 Article 📅 1993 🏛 Nature Publishing Group 🌐 English ⚖ 602 KB

Spectrum of COL4A5 mutations in Finnish

Spectrum of COL4A5 mutations in Finnish Alport syndrome patients

✍ Paula Martin; Niina Heiskari; Heli Pajari; Carola Grönhagen-Riska; Helena Kääriä 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 76 KB 👁 1 views

Alport syndrome (AS) is a hereditary kidney disorder, mainly caused by mutations in the Xchromosomal gene (COL4A5) encoding the type IV collagen α α5 chain. In this study, detection of COL4A5 mutations was performed in 17 Finnish Alport syndrome families. Regions around the 51 previously known exons

A nonsense mutation in the COL4A5 collag

A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome

✍ Hertz, Jens Michael; Heiskari, Niina; Zhou, Jing; Jensen, Uffe Birk; Tryggvason, 📂 Article 📅 1995 🏛 Nature Publishing Group 🌐 English ⚖ 572 KB