| Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes. Bishop D.F., Clavero S., Mohandas N., Desnick R.J.
Mol. Med. 17:748-756(2011) · Mapped (6) |
| Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. Clavero S., Bishop D.F., Giger U., Haskins M.E., Desnick R.J.
Mol. Med. 16:381-388(2010) · UniProtKB (3) |
| Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. Bishop D.F., Schneider-Yin X., Clavero S., Yoo H.W., Minder E.I., Desnick R.J.
Blood 115:1062-1069(2010) · Mapped (3) |
| Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. Clavero S., Bishop D.F., Haskins M.E., Giger U., Kauppinen R., Desnick R.J.
Hum. Mol. Genet. 19:584-596(2010) · UniProtKB (3) |
| New splicing mutations in propionic acidemia. Desviat L.R., Clavero S., Perez-Cerda C., Navarrete R., Ugarte M., Perez B.
J. Hum. Genet. 51:992-997(2006) · Mapped (10) |
| Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts. Perez-Cerda C., Clavero S., Perez B., Rodriguez-Pombo P., Desviat L.R., Ugarte M.
Biochim. Biophys. Acta 1638:43-49(2003) · Mapped (7) |
| Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. Perez B., Desviat L.R., Rodriguez-Pombo P., Clavero S., Navarrete R., Perez-Cerda C., Ugarte M.
Mol. Genet. Metab. 78:59-67(2003) · UniProtKB (2) · Mapped (8) |
| Functional characterization of PCCA mutations causing propionic acidemia. Clavero S., Martinez M.A., Perez B., Perez-Cerda C., Ugarte M., Desviat L.R.
Biochim. Biophys. Acta 1588:119-125(2002) · Mapped (3) |
| Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase. Muro S., Perez B., Desviat L.R., Rodriguez-Pombo P., Perez-Cerda C., Clavero S., Ugarte M.
Mol. Genet. Metab. 74:476-483(2001) · UniProtKB (1) · Mapped (6) |
