Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

Analytical Biochemistry · 1987 · 63.2K citations

Nucleic Acid Chemistry, Engineering, Natural Sciences +7

The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping

Johanna Hästbacka, Albert de la Chapelle, Melanie M. Mahtani et al. · Cell · 1994 · 761 citations

Natural Sciences, Genetics, Dna Replication +7

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

Johanna Hästbacka, Albert de la Chapelle, Ilkka Kaitila et al. · Nature Genetics · 1992 · 565 citations

Biology, Linkage Disequilibrium, Diastrophic Dysplasia +10

Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene

Andrea Superti‐Furga, Johanna Hästbacka, William R. Wilcox et al. · Nature Genetics · 1996 · 234 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

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

Johanna Hästbacka, Andrea Superti‐Furga, William R. Wilcox et al. · PubMed · 1996 · 203 citations