The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis ( CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein
Wheeler, Ruth B., Sharp, Julie D., Schultz, Roger A., Joslin, John M., Williams, Ruth E., Mole, Sara E.
Published in American journal of human genetics (01.02.2002)
Published in American journal of human genetics (01.02.2002)
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Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis
Sharp, Julie D., Wheeler, Ruth B., Parker, Keith A., Gardiner, R. Mark, Williams, Ruth E., Mole, Sara E.
Published in Human mutation (01.07.2003)
Published in Human mutation (01.07.2003)
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Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8
Mitchell, Wayne A., Wheeler, Ruth B., Sharp, Julie D., Bate, S. Louise, Gardiner, R. Mark, Ranta, U. Susanna, Lonka, Liina, Williams, Ruth E., Lehesjoki, Anna-Elina, Mole, Sara E.
Published in European journal of paediatric neurology (2001)
Published in European journal of paediatric neurology (2001)
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Exclusion mapping of classical late infantile neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease, CLN2)
Sharp, J D, Wheeler, R B, Savukoski, M, Kestila, M, Järvelä, I E, Peltonen, L, Eiberg, H, Gardiner, R M, Williams, R
Published in European journal of human genetics : EJHG (1995)
Published in European journal of human genetics : EJHG (1995)
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