| Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11. Heintz C., Dobrowolski S.F., Andersen H.S., Demirkol M., Blau N., Andresen B.S.
Mol. Genet. Metab. 106:403-411(2012) · Mapped (6) |
| The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer. Dobrowolski S.F., Andersen H.S., Doktor T.K., Andresen B.S.
Mol. Genet. Metab. 100:316-323(2010) · Mapped (6) |
| A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin. Dobrowolski S.F., Borski K., Ellingson C.C., Koch R., Levy H.L., Naylor E.W.
J. Hum. Genet. 54:335-339(2009) · Mapped (6) |
| Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients. Dobrowolski S.F., Pey A.L., Koch R., Levy H., Ellingson C.C., Naylor E.W., Martinez A.
J. Inherit. Metab. Dis. 32:10-21(2009) · Mapped (6) |
| Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles. Dobrowolski S.F., Ellingson C., Coyne T., Grey J., Martin R., Naylor E.W., Koch R., Levy H.L.
Mol. Genet. Metab. 91:218-227(2007) · Mapped (6) |
| Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. Dobrowolski S.F., McKinney J.T., Amat di San Filippo C., Giak Sim K., Wilcken B., Longo N.
Hum. Mutat. 25:306-313(2005) · UniProtKB (1) · Mapped (1) |
| Detection and assignment of CYP21 mutations using peptide mass signature genotyping. Zeng X., Witchel S.F., Dobrowolski S.F., Moulder P.V., Jarvik J.W., Telmer C.A.
Mol. Genet. Metab. 82:38-47(2004) · UniProtKB (1) · Mapped (33) |
| Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. Dobrowolski S.F., Angeletti J., Banas R.A., Naylor E.W.
Mol. Genet. Metab. 78:100-107(2003) · Mapped (4) |
| Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Andresen B.S., Dobrowolski S.F., O'Reilly L., Muenzer J., McCandless S.E., Frazier D.M., Udvari S., Bross P., Knudsen I., Banas R. et al.
Am. J. Hum. Genet. 68:1408-1418(2001) · UniProtKB (1) |
