Lluís M. Callís

A New Point Mutation in the COL4A5 Gene Described in a Spanish Family with X-Linked Alport Syndrome

Lluís Palenzuela, Lluís M. Callís, Ramón Vilalta, Ángel Gallego Vila et autres

BACKGROUND/AIM: Alport syndrome is a hereditary glomerulonephritis, X-linked in 85% of the cases. This form is associated with mutations in the COL4A5 gene which encodes the alpha5 chain of type IV collagen. We have performed the mutational analysis of the COL4A5 gene …

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Contents Vol. 90, 2002

Mohammed Shawkat Razzaque, Akiko Ohmoto, Taro Sugimoto, Haruo Ichikawa et autres

Author Index Vol. 90, 2002

Mohammed Shawkat Razzaque, Akiko Ohmoto, Taro Sugimoto, Haruo Ichikawa et autres

Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families

Roser Torrá, Célia Bádenas, Frederic Cofán, Lluís M. Callís et autres

BACKGROUND: Genetic heterogeneity is a well-known feature of Alport syndrome (AS). Most families with AS show an X-linked dominant pattern of inheritance but about 15% of families show an autosomal inheritance of the disease. Autosomal recessive AS may account for 10% of …

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