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
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
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