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Phenylalanine hydroxylase gene: A novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria

✍ Scribed by Marta Zygulska; Antonin Eigel; Jacek J. Pietrzyk; Jürgen Horst

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
165 KB
Volume
2
Category
Article
ISSN
1059-7794

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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