Varaico: Literature-Extracted Genetic Variants

Gene:SLC27A2
Variant:p.P70R
Back to variants list

SLC27A2

NM_003645.4:p.P70R

Associated Papers

Adrenoleukodystrophy.

Cappa M et al.

Endocrine Development, 2011

[Adrenoleukodystrophy: molecular pathogenesis and development of therapeutic agents].

Morita M

Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2007

Evaluation of therapy of X-linked adrenoleukodystrophy.

Moser HW et al.

Neurochemical Research, 2004

Simvastatin does not normalize very long chain fatty acids in adrenoleukodystrophy mice.

Cartier N et al.

Febs Letters, 2000

X-linked adrenoleukodystrophy enigma: how does the ALD peroxisomal transporter mutation affect CNS glia?

Aubourg P et al.

Glia, 2000

Very-long-chain fatty acid metabolism in adrenoleukodystrophy protein-deficient mice.

Yamada T et al.

Cell Biochemistry and Biophysics, 2000

A mouse model for X-linked adrenoleukodystrophy.

Lu JF et al.

Proceedings of the National Academy of Sciences of the United States of America, 1997

[Adrenoleukodystrophy: significance for genetic counseling of the determination of very long-chain fatty acids and of molecular biology].

Mathieu M et al.

Annales De Pediatrie, 1990

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."