✦ LIBER ✦

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

✍ Scribed by Berthold Struk; Li Cai; Stéphanie Zäch; Wan Ji; Joon Chung; Amanda Lumsden; Markus Stumm; Marcel Huber; Lori Schaen; Chung-Ah Kim; Lowell A. Goldsmith; Denis Viljoen; Luis E. Figuera; Wayne Fuchs; Francis Munier; Raj Ramesar; Daniel Hohl; Robert Richards; Kenneth H. Neldner; Klaus Lindpaintner

Publisher: Springer
Year: 2000
Tongue: English
Weight: 115 KB
Volume: 78
Category: Article
ISSN: 0946-2716
DOI: 10.1007/s001090000114

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutations of the CEP290 gene encoding a

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome

✍ Valeska Frank; Anneke I. den Hollander; Nadina Ortiz Brüchle; Marijke N. Zonneve 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 328 KB

## Communicated by Iain McIntosh Meckel-Gruber syndrome (MKS) is an autosomal recessive, lethal multisystemic disorder characterized by meningooccipital encephalocele, cystic kidney dysplasia, hepatobiliary ductal plate malformation, and postaxial polydactyly. Recently, genes for MKS1 and MKS3 wer

Mutations of the multi-drug resistance-a

Mutations of the multi-drug resistance-associated protein ABC transporter gene 5 result in reduction of phytic acid in rice seeds

✍ Xiu-Hong Xu; Hai-Jun Zhao; Qing-Long Liu; Thomas Frank; Karl-Heinz Engel; Gynheu 📂 Article 📅 2009 🏛 Springer 🌐 English ⚖ 442 KB