Work

Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2

Year: 2006

Type: article

Source: Journal of Neuroscience Methods

DOI: 10.1016/j.jneumeth.2006.04.015

Authors: Adam R. Leman, Susan Polochock, Sara E. Mole, David A. Pearce, Paul G. Rothberg

Institutions: University of Rochester Medicine, University of Rochester, MRC Laboratory for Molecular Cell Biology, University College London

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Batten Disease Support and Research Association

OpenAlex ID: W2069928631

FWCI: 0.886

Cites: 31

Cited by: 5

Related to: 10