✦ LIBER ✦

Erratum to Mutation and polymorphism analysis of theTRKA (NTRK1)gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families

✍ Scribed by Yuichi Miura; Sek Mardy; Yutaka Awaya; Kenji Nihei; Fumio Endo; Ichiro Matsuda; Yasuhiro Indo

Publisher: Springer
Year: 2000
Tongue: English
Weight: 10 KB
Volume: 106
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004390050027

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation and polymorphism analysis of th

Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families

✍ Y. Miura; S. Mardy; Y. Awaya; K. Nihei; F. Endo; I. Matsuda; Y. Indo 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 159 KB

Molecular basis of congenital insensitiv

Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): Mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor

✍ Yasuhiro Indo 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 303 KB 👁 1 views

Congenital insensitivity to pain with anhidrosis (CIPA), also referred to as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli

The Gly571arg mutation, associated with

The Gly571arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with anhidrosis, causes the inactivation of the NTRK1/nerve growth factor receptor

✍ Angela Greco; Riccardo Villa; Lisa Fusetti; Rosaria Orlandi; Marco A. Pierotti 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 207 KB 👁 2 views

Point mutations affecting the NTRK1/TRKA gene, encoding one of the receptors for the nerve growth factor (NGF), have been detected in congenital insensitivity to pain with anhidrosis (CIPA), a human hereditary sensory neuropathy characterized by absence of reaction to noxious stimuli and anhidrosis.

Congenital insensitivity to pain with an

Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency

✍ Yasuhiro Indo; Sek Mardy; Yuichi Miura; Allie Moosa; Essam A.R. Ismail; Ennio To 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 477 KB

Congenital insensitivity to pain with anhidrosis is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. The human TRKA gene (NTRK1), located on

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