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A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry
A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry
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A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry

Guo, Juyuan ; Johnson, Gary S. ; Brown, Holly A. ; Provencher, Michele L. ; da Costa, Ronaldo C. ; Mhlanga-Mutangadura, Tendai ; Taylor, Jeremy F. ; Schnabel, Robert D. ; O'Brien, Dennis P. ; Katz, Martin L.

Molecular genetics and metabolism, 2014-08, Vol.112 (4), p.302-309 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease
Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease
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Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease

Koch, J ; Gärtner, S ; Li, C M ; Quintern, L E ; Bernardo, K ; Levran, O ; Schnabel, D ; Desnick, R J ; Schuchman, E H ; Sandhoff, K

The Journal of biological chemistry, 1996-12, Vol.271 (51), p.33110-33115 [Periódico revisado por pares]

United States

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3
Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene
Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene
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Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene

SCHNABEL, D ; SCHRODER, M ; SANDHOFF, K ; FÜRST, W ; KLEIN, A ; KURWITZ, R ; ZENK, T ; WEBER, J ; HARZER, K ; PATON, B. C ; SUZUKI, K

The Journal of biological chemistry, 1992-02, Vol.267 (5), p.3312-3315 [Periódico revisado por pares]

Bethesda, MD: American Society for Biochemistry and Molecular Biology

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