Growth Hormone Insensitivity and Severe Short Stature in Siblings: A Novel Mutation at the Exon 13-Intron 13 Junction of the STAT5b Gene

Two novel mutant alleles of the gene enc

Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: A splice junction mutation in intron 5 and cluster of four mutations in exon 15

✍ Marek Bodzioch; Katarzyna Lapicka; Charalampos Aslanidis; Marek Kacinski; Gerd S 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 3 views

Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic neuropathy type IV (HSAN IV), is caused by mutations of the NTRK1 gene coding for the neurotrophic tyrosine kinase receptor type 1. We report the results of the NTRK1 sequence analysis in a CIPA fam