Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
Saved in:
| Title: | Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry. |
|---|---|
| Authors: | Billington CJ Jr; Children's National Rare Disease Institute, Washington, District of Columbia, USA.; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA., Chapman KA; Children's National Rare Disease Institute, Washington, District of Columbia, USA., Leon E; Children's National Rare Disease Institute, Washington, District of Columbia, USA., Meltzer BW; Laboratory Medicine, Children's National Hospital, Washington, District of Columbia, USA., Berger SI; Children's National Rare Disease Institute, Washington, District of Columbia, USA., Olson M; HemoShear Therapeutics, Inc., Charlottesville, Virginia, USA., Figler RA; HemoShear Therapeutics, Inc., Charlottesville, Virginia, USA., Hoang SA; HemoShear Therapeutics, Inc., Charlottesville, Virginia, USA., Wanxing C; Georgetown University Hospital, Washington, District of Columbia, USA., Wamhoff BR; HemoShear Therapeutics, Inc., Charlottesville, Virginia, USA., Collado MS; HemoShear Therapeutics, Inc., Charlottesville, Virginia, USA., Cusmano-Ozog K; Department of Pathology, Stanford University Medical Center, Stanford, California, USA. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Sep; Vol. 188 (9), pp. 2738-2749. Date of Electronic Publication: 2022 Jul 07. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1552-4833 |
|---|---|
| DOI: | 10.1002/ajmg.a.62893 |
