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Fetal echogenic bowel and a dilated loop of bowel associated with cystic fibrosis (CF mutations ΔF508 and 2183AA→G.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 6, p. 638, doi. 10.1002/(SICI)1097-0223(199806)18:6<638::AID-PD294>3.0.CO;2-Z
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- Article
Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 140, doi. 10.1002/jimd.12035
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- Publication type:
- Article
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 6, p. 795, doi. 10.1002/mgg3.333
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- Article