AAAAAA

   
Results: 1-3 |
Results: 3
A SPLICE-SITE MUTATION THAT INDUCES EXON SKIPPING AND REDUCTION IN LYSYL HYDROXYLASE MESSENGER-RNA LEVELS BUT DOES NOT CREATE A NONSENSE CODON IN EHLERS-DANLOS-SYNDROME TYPE-VI
Authors: PAJUNEN L SUOKAS M HAUTALA T KELLOKUMPU S TEBBE B KIVIRIKKO KI MYLLYLA R
Citation: L. Pajunen et al., A SPLICE-SITE MUTATION THAT INDUCES EXON SKIPPING AND REDUCTION IN LYSYL HYDROXYLASE MESSENGER-RNA LEVELS BUT DOES NOT CREATE A NONSENSE CODON IN EHLERS-DANLOS-SYNDROME TYPE-VI, DNA and cell biology, 17(2), 1998, pp. 117-123
NEW LETHAL DISEASE INVOLVING TYPE-I AND TYPE-III COLLAGEN DEFECT RESEMBLING GERODERMA OSTEODYSPLASTICA, DE-BARSY-SYNDROME, AND EHLERS-DANLOS-SYNDROME-IV
Authors: JUKKOLA A KAUPPILA S RISTELI L VUOPALA K RISTELI J LEISTI J PAJUNEN L
Citation: A. Jukkola et al., NEW LETHAL DISEASE INVOLVING TYPE-I AND TYPE-III COLLAGEN DEFECT RESEMBLING GERODERMA OSTEODYSPLASTICA, DE-BARSY-SYNDROME, AND EHLERS-DANLOS-SYNDROME-IV, Journal of Medical Genetics, 35(6), 1998, pp. 513-518
ALU-ALU RECOMBINATION RESULTS IN A DUPLICATION OF 7 EXONS IN THE LYSYL HYDROXYLASE GENE IN A PATIENT WITH THE TYPE-VI VARIANT OF EHLERS-DANLOS-SYNDROME
Authors: POUSI B HAUTALA T HEIKKINEN J PAJUNEN L KIVIRIKKO KI MYLLYLA R
Citation: B. Pousi et al., ALU-ALU RECOMBINATION RESULTS IN A DUPLICATION OF 7 EXONS IN THE LYSYL HYDROXYLASE GENE IN A PATIENT WITH THE TYPE-VI VARIANT OF EHLERS-DANLOS-SYNDROME, American journal of human genetics, 55(5), 1994, pp. 899-906
Risultati: 1-3 |