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Results: 1-7 |
Results: 7
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies
Authors: Jaksch, M Kleinle, S Scharfe, C Klopstock, T Pongratz, D Muller-Hocker, J Gerbitz, KD Liechti-Gallati, S Lochmuller, H Horvath, R
Citation: M. Jaksch et al., Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies, J MED GENET, 38(10), 2001, pp. 665-673
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
Authors: Pusch, CM Zeitz, C Brandau, O Pesch, K Achatz, H Feil, S Scharfe, C Maurer, J Jacobi, FK Pinckers, A Andreasson, S Hardcastle, A Wissinger, B Berger, W Meindl, A
Citation: Cm. Pusch et al., The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein, NAT GENET, 26(3), 2000, pp. 324-327
MITOP, the mitochondrial proteome database: 2000 update
Authors: Scharfe, C Zaccaria, P Hoertnagel, K Jaksch, M Klopstock, T Dembowski, M Lill, R Prokisch, H Gerbitz, KD Neupert, W Mewes, HW Meitinger, T
Citation: C. Scharfe et al., MITOP, the mitochondrial proteome database: 2000 update, NUCL ACID R, 28(1), 2000, pp. 155-158
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
Authors: Scharfe, C Hauschild, M Klopstock, T Janssen, AJM Heidemann, PH Meitinger, T Jaksch, M
Citation: C. Scharfe et al., A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I, J MED GENET, 37(9), 2000, pp. 669-673
MITOP: database for mitochondria-related proteins, genes and diseases
Authors: Scharfe, C Zaccaria, P Hoertnagel, K Jaksch, M Klopstock, T Lill, R Prokisch, H Gerbitz, KD Mewes, HW Meitinger, T
Citation: C. Scharfe et al., MITOP: database for mitochondria-related proteins, genes and diseases, NUCL ACID R, 27(1), 1999, pp. 153-155
Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
Authors: Strom, TM Hortnagel, K Hofmann, S Gekeler, F Scharfe, C Rabl, W Gerbitz, KD Meitinger, T
Citation: Tm. Strom et al., Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein, HUM MOL GEN, 7(13), 1998, pp. 2021-2028
The MITOP database - a one-stop shop for mitochondrial information
Authors: Scharfe, C
Citation: C. Scharfe, The MITOP database - a one-stop shop for mitochondrial information, TRENDS GEN, 14(12), 1998, pp. 519-519
Risultati: 1-7 |