IPN Mutations
Reference
| Title |
Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies. |
| Authors |
Shatzky S, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R |
| Reference |
Am J Med Genet 92: 353-360, 2000
(PubMed ID:
10861667
)
|
|
NTRK1 (TRKA):
([Gly613Val]+[Gly613Val])
([Pro621fs]+[Pro621fs])
([Pro621fs]+[Pro621fs])
(Ala629Ala)
([Gly684Gly]+[Gly684Gly])
([Pro695Leu]+[Pro695Leu])
|
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Mutations
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Reference
| Title |
Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV. |
| Authors |
Verpoorten N, Claeys KG, Deprez L, Jacobs A, Van Gerwen V, Lagae L, Arts WF, De Meirleir L, Keymolen K, Ceuterick-de Groote C, De Jonghe P, Timmerman V, Nelis E |
| Reference |
Neuromusc Disord 16: 19-25, 2006
(PubMed ID:
16373086
)
|
|
NTRK1 (TRKA):
(5'-splice site (skipping exon 3 and skipping exons 2+3))
(Gly181fs)
([Gly613Val]+[Gly613Val])
(Gln626fs)
(Ala629Ala)
([Arg761Trp]+[Arg761Trp])
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Mutations
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