Concepedia

Sjögren-Larsson Syndrome Is Caused by a Common Mutation in Northern European and Swedish Patients

Vincenzo De Laurenzi, Geraldine R. Rogers, Edit Tarcsa, Gael Carney, Lyuben N. Marekov, Sherri J. Bale, John G. Compton, Nelli Markova, Peter M. Steinert, William B. Rizzo

Journal of Investigative Dermatology · 1997 · 38 citations · 21 references

DOI

Concepts

References

21

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

Randall K. Saiki, Teodorica L. Bugawan, Glenn T. Horn et al. · Nature · 1986 · 1.8K citations

, , +14

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

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

Vincenzo De Laurenzi, Geraldine R. Rogers, David J. Hamrock et al. · Nature Genetics · 1996 · 272 citations

, , +13

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

, , +16

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

, , +16