A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease

Stephan Züchner; Anne D. Sperfeld; Jan Senderek; Bernd Sellhaus; Clemens Oliver Hanemann; J. Michael Schröder

doi:10.1093/brain/awg074

A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease

Stephan Züchner
, Anne D. Sperfeld
, Jan Senderek
, Bernd Sellhaus
, Clemens Oliver Hanemann
, J. Michael Schröder^*

^*Corresponding author for this work

Peninsula Medical School

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	920-927
Number of pages	0
Journal	Brain
Volume	126
Issue number	0
DOIs	https://doi.org/10.1093/brain/awg074
Publication status	Published - 2003

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Tangier disease
ABC1 gene
peripheral neuropathy
syringomyelia
high-density lipoprotein

Access to Document

10.1093/brain/awg074

Cite this

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title = "A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease",

keywords = "Tangier disease, ABC1 gene, peripheral neuropathy, syringomyelia, high-density lipoprotein",

author = "Stephan Z{\"u}chner and Sperfeld, \{Anne D.\} and Jan Senderek and Bernd Sellhaus and Hanemann, \{Clemens Oliver\} and Schr{\"o}der, \{J. Michael\}",

year = "2003",

doi = "10.1093/brain/awg074",

language = "English",

volume = "126",

pages = "920--927",

journal = "Brain",

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T1 - A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease

AU - Züchner, Stephan

AU - Sperfeld, Anne D.

AU - Senderek, Jan

AU - Sellhaus, Bernd

AU - Hanemann, Clemens Oliver

AU - Schröder, J. Michael

PY - 2003

Y1 - 2003

KW - Tangier disease

KW - ABC1 gene

KW - peripheral neuropathy

KW - syringomyelia

KW - high-density lipoprotein

U2 - 10.1093/brain/awg074

DO - 10.1093/brain/awg074

M3 - Article

SN - 0006-8950

VL - 126

SP - 920

EP - 927

JO - Brain

JF - Brain

IS - 0

ER -