Concepedia

Sjögren–Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

Vincenzo De Laurenzi, Geraldine R. Rogers, David J. Hamrock, Lyuben N. Marekov, Peter M. Steinert, John G. Compton, Nelli Markova, William B. Rizzo

Nature Genetics · 1996 · 272 citations · 18 references

DOI

Concepts

References

18

Molecular abnormality of an inactive aldehyde dehydrogenase variant commonly found in Orientals.

Akira Yoshida, I.Y. Huang, Michiharu Ikawa · Proceedings of the National Academy of Sciences · 1984 · 455 citations

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Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs

Brenda Richards, Joel Skoletsky, Anthony P. Shuber et al. · Human Molecular Genetics · 1993 · 414 citations

, , +15

Aldehyde dehydrogenases: Widespread structural and functional diversity within a shared framework

J Hempel, Hugh B. Nicholas, Ronald Lindahl · Protein Science · 1993 · 176 citations · Full text

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Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts.

William B. Rizzo, Debra A. Craft · Journal of Clinical Investigation · 1991 · 145 citations · Full text

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Oligophrenia in Combination with Congenital Ichthyosis and Spastic Disorders

Frederick A. Horner · Archives of Pediatrics and Adolescent Medicine · 1959 · 141 citations

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