(Q43579799)
Statements
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A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation (English)
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Hulková H
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Cervenková M
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Tochácková M
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Hrebícek M
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Poupetová H
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Befekadu A
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Berná L
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Paton BC
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Harzer K
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Böör A
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Smíd F
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Elleder M
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1 April 2001
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Identifiers
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