✦ LIBER ✦

Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome

✍ Scribed by Mochizuki, Toshio; Lemmink, Henny H.; Mariyama, Mariko; Antignac, Corinne; Gubler, Marie-Claire; Pirson, Yves; Verellen-Dumoulin, Christine; Chan, Belinda; Schröder, Cornelis H.; Smeets, Hubert J.

Book ID: 109917901
Publisher: Nature Publishing Group
Year: 1994
Tongue: English
Weight: 648 KB
Volume: 8
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0994-77

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

COL4A5 splice site mutation and α5(IV) c

COL4A5 splice site mutation and α5(IV) collagen mRNA in Alport syndrome

✍ Netzer, Kai-Olaf; Pullig, Oliver; Frei, Ulrich; Zhou, Jing; Tryggvason, Karl; We 📂 Article 📅 1993 🏛 Nature Publishing Group 🌐 English ⚖ 844 KB

A splicing mutation in the α5(IV) collag

A splicing mutation in the α5(IV) collagen gene of a family with Alport's syndrome

✍ Nomura, Shinsuke; Osawa, Gengo; Sai, Tetsujun; Harano, Teruo; Harano, Keiko 📂 Article 📅 1993 🏛 Nature Publishing Group 🌐 English ⚖ 989 KB

COL4A5 gene deletion and production of p

COL4A5 gene deletion and production of post-transplant anti-α3(IV) collagen alloantibodies in Alport syndrome

✍ Kalluri, Raghuram; Weber, Manfred; Netzer, Kai-Olaf; Sun, Mae Jane; Neilson, Eri 📂 Article 📅 1994 🏛 Nature Publishing Group 🌐 English ⚖ 665 KB

Absence of α6(IV) collagen in kidney and

Absence of α6(IV) collagen in kidney and skin of X-linked Alport syndrome patients

✍ Satoshi Hino; Tsukasa Takemura; Yoshikazu Sado; Megumi Kagawa; Toshitaka Oohashi 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 141 KB

Identification, distribution, and tissul

Identification, distribution, and tissular origin of the α5(IV) and α6(IV) collagen chains in the developing human intestine

✍ Aline Simoneau; F. Elizabeth Herring-Gillam; Pierre H. Vachon; Nathalie Perreaul 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 474 KB 👁 1 views

The basement membrane type IV collagen is a family composed of six genetically distinct but structurally similar polypeptide chains, ␣1-␣6. The ␣1(IV) and ␣2(IV) chains are ubiquitous components of all BMs whereas the other four have a restricted tissue distribution. In the present study, we have an