U50708[Secondary Source ID] - 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

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
2001	1
2025	0

2 results

Page of 1

Results by year

Page 1

Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population.

Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA. Edelmann L, et al. Am J Hum Genet. 2001 Oct;69(4):863-8. doi: 10.1086/323677. Epub 2001 Aug 16. Am J Hum Genet. 2001. PMID: 11509994 Free PMC article.

Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences.

Chuang JL, Cox RP, Chuang DT. Chuang JL, et al. Am J Hum Genet. 1996 Jun;58(6):1373-7. Am J Hum Genet. 1996. PMID: 8651316 Free PMC article. No abstract available.

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 Custom Filters

Results by year

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

2 results

Results by year

Search Page

Filters

My Custom Filters

Results by year

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

2 results

Results by year