A novel homozygous mutation in the parathyroid hormone gene (PTH) in a girl with isolated hypoparathyroidism

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

Corrigenda

Karen K. Winer, Bo Zhang, Joseph A. Shrader et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 235 citations · Full text

Medicine, Endocrinology, Nephrology +16

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism

David B. Parkinson, Rajesh V. Thakker · Nature Genetics · 1992 · 231 citations

Medicine, Genetics, Molecular Genetics +15

Nucleotide sequence of the human parathyroid hormone gene.

Thomas J. Vasicek, Barbara E. McDevitt, Mason W. Freeman et al. · Proceedings of the National Academy of Sciences · 1983 · 211 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB

Changlin Ding, Bruce A. Buckingham, Michael A. Levine · Journal of Clinical Investigation · 2001 · 194 citations · Full text

Medicine, Endocrinology, Genetics +17