Diastrophic dysplasia gene maps to the distal long arm of chromosome 5.

Autor Hästbacka, J, Kaitila, I, Sistonen, P, de la Chapelle, A
Vydáno 1990

RFLPs in the fibroblast growth factor receptor-4 locus (FGFR4) in 5q33-qter

Autor Armstrong, E., Hästbacka, J., Partanen, J., Huebner, K., Alitalo, K.
Vydáno 1991

Prenatal diagnosis of diastrophic dysplasia with polymorphic DNA markers.

Autor Hästbacka, J, Salonen, R, Laurila, P, de la Chapelle, A, Kaitila, I
Vydáno 1993

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.

Autor Hästbacka, J., Superti-Furga, A., Wilcox, W. R., Rimoin, D. L., Cohn, D. H., Lander, E. S.
Vydáno 1996

Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.

Autor Lehesjoki, A E, Koskiniemi, M, Sistonen, P, Miao, J, Hästbacka, J, Norio, R, de la Chapelle, A
Vydáno 1991

A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia

Autor Bonafé, L, Hästbacka, J, de la Chapelle, A, Campos-Xavier, A B, Chiesa, C, Forlino, A, Superti-Furga, A, Rossi, A
Vydáno v J Med Genet (2008)