25047030,10577908,9829906,9254849,8528251 - Search Results

This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

Skip to main page content

Save citations to file

Email citations

Subject: 25047030,10577908,9829906,9254849,8528251 - PubMed

To:

From:

Selection:

Format:

MeSH and other data

Add to Collections

Add to My Bibliography

Your saved search

Name of saved search:

Search terms:

Test search terms

Would you like email updates of new search results?

Email: (change)

Frequency:

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

Results by year

Year	Number of Results
1996	1
1997	1
1998	1
1999	1
2014	1
2024	0

5 results

Page of 1

Results by year

Page 1

A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.

Keller MA, Zander U, Fuchs JE, Kreutz C, Watschinger K, Mueller T, Golderer G, Liedl KR, Ralser M, Kräutler B, Werner ER, Marquez JA. Keller MA, et al. Nat Commun. 2014 Jul 22;5:4439. doi: 10.1038/ncomms5439. Nat Commun. 2014. PMID: 25047030 Free PMC article.

The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene.

Rizzo WB, Carney G, Lin Z. Rizzo WB, et al. Am J Hum Genet. 1999 Dec;65(6):1547-60. doi: 10.1086/302681. Am J Hum Genet. 1999. PMID: 10577908 Free PMC article.

Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome.

Sillén A, Anton-Lamprecht I, Braun-Quentin C, Kraus CS, Sayli BS, Ayuso C, Jagell S, Küster W, Wadelius C. Sillén A, et al. Hum Mutat. 1998;12(6):377-84. doi: 10.1002/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I. Hum Mutat. 1998. PMID: 9829906

A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden.

Sillén A, Jagell S, Wadelius C. Sillén A, et al. Hum Genet. 1997 Aug;100(2):201-3. doi: 10.1007/s004390050490. Hum Genet. 1997. PMID: 9254849

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

De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, Rizzo WB. De Laurenzi V, et al. Nat Genet. 1996 Jan;12(1):52-7. doi: 10.1038/ng0196-52. Nat Genet. 1996. PMID: 8528251

Page of 1

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

5 results

Results by year

Search Page

Filters

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

Search Results

5 results

Results by year