Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support

Thomas Hultman, Stefan Ståhl, Erik Homes et al. · Nucleic Acids Research · 1989 · 732 citations · Full text

Life Sciences, Biotechnology, Molecular Biology +9

Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism.

Andrew Arnold, S A Horst, Thomas J. Gardella et al. · Journal of Clinical Investigation · 1990 · 305 citations · Full text

Medicine, Genetics, Molecular Genetics +15

A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)

M Lagerström, Niklas Dahl, Yutaka Nakahori et al. · Genomics · 1991 · 287 citations

Life Sciences, Genetics, Molecular Genetics +7

Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1)

MichaelJ. Aldred, PeterJ.M. Crawford, Enriqueta Roberts et al. · Human Genetics · 1992 · 132 citations

Life Sciences, Genetics, Molecular Genetics +8

Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus.

Michiho Ito, Yutaka Oiso, Takuhei Murase et al. · Journal of Clinical Investigation · 1993 · 106 citations · Full text

Life Sciences, Endocrinology, Molecular Biology +16