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Homozygosity at chromosome 8qter in individuals affected by mal de Meleda (Meleda disease) originating from the island of Meleda.
Published in:
British Journal of Dermatology, 2001, v. 144, n. 4, p. 731, doi. 10.1046/j.1365-2133.2001.04127.x
By:
- Patel, H.;
- Nardelli, M.;
- Fenn, T.;
- Houlston, R.;
- Coonar, A.;
- Patton, M.A.;
- Crosby, A.H.
Publication type:
Article
A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.
Published in:
Brain: A Journal of Neurology, 2004, v. 127, n. 9, p. 2148, doi. 10.1093/brain/awh299
By:
- P.A. Wilkinson;
- A.H. Crosby;
- C. Turner;
- L.J. Bradley;
- L. Ginsberg;
- N.W. Wood;
- A.H. Schapira;
- T.T. Warner
Publication type:
Article
correction: The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.
Published in:
2001
By:
- Tartaglia, M.;
- Mehler, E.L.;
- Goldberg, R.;
- Zampino, G.;
- Brunner, H.G.;
- Kremer, H.;
- van der Burgt, I.;
- Crosby, A.H.;
- Ion, A.;
- Jeffery, S.;
- Kalidas, K.;
- Patton, M.A.;
- Kucherlapati, R.S.;
- Gelb, B.
Publication type:
Erratum
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.
Published in:
Human Mutation, 2003, v. 21, n. 2, p. 170, doi. 10.1002/humu.9108
By:
- Proukakis, C.;
- Auer-Grumbach, M.;
- Wagner, K.;
- Wilkinson, P.A.;
- Reid, E.;
- Patton, M.A.;
- Warner, T.T.;
- Crosby, A.H.
Publication type:
Article