| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 9887998 | Clinica Chimica Acta | 2005 | 9 Pages |
Abstract
DNA mutation analysis of the genes involved can prove the defects at the molecular level. To diagnose female patients with SLC6A8 deficiency, mutation analysis may be the only choice.
Keywords
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Biochemistry
Authors
Nanda M. Verhoeven, Gajja S. Salomons, Cornelis Jakobs,