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
Bodzioch, Marek, Lapicka, Katarzyna, Aslanidis, Charalampos, Kacinski, Marek and Schmitz, Gerd (2000) 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. Human Mutation 17 (1), p. 72.Date of publication of this fulltext: 19 Dec 2024 15:54
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| Item type | Article | ||||
| Journal or Publication Title | Human Mutation | ||||
| Publisher: | WILEY-BLACKWELL | ||||
|---|---|---|---|---|---|
| Place of Publication: | HOBOKEN | ||||
| Volume: | 17 | ||||
| Number of Issue or Book Chapter: | 1 | ||||
| Page Range: | p. 72 | ||||
| Date | 2000 | ||||
| Institutions | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin | ||||
| Identification Number |
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| Keywords | ; congenital insensitivity to pain with anhidrosis; CIPA; hereditary sensory and autonomic neuropathy type IV; HSAN IV; Neurotrophic Tyrosine Kinase Receptor Type 1; NTRK1; mutation cluster | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 73909 |
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