The United States of America, As Represented by the Secretary, Department of Health and Human Services

Other

Ramot University Authority for Applied Research and Industrial Development Limited

Ramot University Authority for Applied Research and Industrial

Danilo A Tagle

Francis S Collins

Yosef Shiloh

William J Pavan

Jessie Gu

Peter G Pentchev

Eugene D Carstea

Melissa A Ashlock

Jill A Morris

Stacie K Loftus

A gene for type C Niemann-Pick disease (NP-C) is disclosed, along with the amino acid sequence of the encoded peptide. Applications which are made possible by the present invention include detection of NP-C carriers and diagnosis of NP-C sufferers. The murine ortholog of the human gene is also disclosed.

Genes for Niemann-Pick type C disease

There is provided a purified amino acid sequence selected from the group of Sequence ID No.: 3 and analogs thereof and mutations of Sequence ID No.: 3 which cause ataxia-telangiectasia. Also provided is a purified amino acid sequence as set forth in Sequence ID No.: 3 and analogs thereof.

Ataxia-telangiectasia gene

A purified and isolated gene, designated ATM, mutations of which cause ataxia-telangiectasia.

cDNAs associated with ataxia-telangiectasia

Mutated proteins associated with ataxia-telangiectasia

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Gaithersburg, MD, United States of America

Danilo A Tagle