No label defined (Q24633991)
Jump to navigation
Jump to search
scientific article
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | No label defined |
scientific article |
Statements
Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region (English)
0 references
April 1991
0 references
87
0 references
4
0 references
1207-11
0 references
2 references
1 reference
1 reference