CareLit · DOI-Nachweis · Aktuelle Neurologie
Tangier disease with syringomyelia-like phenotype in a family from Afghanistan caused by a novel mutation in the ABCA1 gene
DOI 10.1055/s-2006-953311
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Nachweis in CareLit
Autor:innenS. Schippling, T. Rosenkranz, P. Vogel, U. Beisiegel, A. Münchau, C. Hagel, U. Seedorf
ZeitschriftAktuelle Neurologie
Ausgabe09/2006
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Tangier disease (TD) is a rare autosomal co-dominant disorder caused by mutations in the recently identified ATP-binding cassette transporter A1 gene (ABCA1) located on chromosome 9q31. ABCA1 is a member of a large superfamily of cassette transporter proteins coupling the hydrolysis of ATP to the translocation of various intracellular substrates and plays a major role in reverse cholesterol transport. TD is characte…
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Zitierempfehlung
S. Schippling, T. Rosenkranz, P. Vogel, U. Beisiegel, A. Münchau, C. Hagel, U. Seedorf (2006) Tangier disease with syringomyelia-like phenotype in a family from Afghanistan caused by a novel mutation in the ABCA1 gene. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2006-953311
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