Article

A Novel Mutation of the Signal Peptide of the Preproparathyroid Hormone Gene Associated with Autosomal Recessive Familial Isolated Hypoparathyroidism

1999-10-01

Abstract excerpt

No abstract is available from the source.

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ba5764f5-9672-572e-9af2-e0730272c3bd
DOI: 10.1210/jc.84.10.3792

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A Novel Mutation of the Signal Peptide of the Preproparathyroid Hormone Gene Associated with Autosomal Recessive Familial Isolated HypoparathyroidismDOI 10.1210/jc.84.10.3792Read

A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism.Semantic proximity Read

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

Severe Congenital Hyperthyroidism Caused by a Germ-Line neo Mutation in the Extracellular Portion of the Thyrotropin ReceptorSemantic proximity Read

Rare PTH Gene Mutations Causing Parathyroid Disorders: A Review.Semantic proximity Read

The parathyroid glands and parathyroid hormone: Insights from PTH gene mutations.Semantic proximity Read

Mutations of the Human Thyrotropin Receptor Gene Causing Thyroid Hypoplasia and Persistent Congenital HypothyroidismSemantic proximity Read

Inefficient membrane targeting, translocation, and proteolytic processing by signal peptidase of a mutant preproparathyroid hormone protein.Semantic proximity Read

Familial Isolated Hyperparathyroidism as a Variant of Multiple Endocrine Neoplasia Type 1 in a Large Danish PedigreeSemantic proximity Read

Cretinism with combined hormone deficiency caused by a mutation in the PIT1 geneSemantic proximity Read

Germline mutations in the thyrotropin receptor gene cause non–autoimmune autosomal dominant hyperthyroidismSemantic proximity Read

Analysis of aberrantly spliced transcripts of a novel de novo GNAS mutant in a male with albright hereditary osteodystrophy and PHP1A.Semantic proximity Read

Novel PTH Gene Mutations Causing Isolated Hypoparathyroidism.Semantic proximity Read