| 000 | 01476 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250516043734.0 | ||
| 264 | 0 | _c20110915 | |
| 008 | 201109s 0 0 eng d | ||
| 022 | _a1471-2350 | ||
| 024 | 7 |
_a10.1186/1471-2350-12-86 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSarasola, Esther | |
| 245 | 0 | 0 |
_aA short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis. _h[electronic resource] |
| 260 |
_bBMC medical genetics _cJun 2011 |
||
| 300 |
_a86 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHereditary Sensory and Autonomic Neuropathies _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIntrons _xgenetics |
| 650 | 0 | 4 | _aPain Perception |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aProtein Structure, Tertiary _xgenetics |
| 650 | 0 | 4 |
_aRNA Splice Sites _xgenetics |
| 650 | 0 | 4 |
_aRNA Splicing _xgenetics |
| 650 | 0 | 4 |
_aReceptor, trkA _xchemistry |
| 650 | 0 | 4 |
_aSequence Deletion _xgenetics |
| 700 | 1 | _aRodríguez, Jose A | |
| 700 | 1 | _aGarrote, Elisa | |
| 700 | 1 | _aArístegui, Javier | |
| 700 | 1 | _aGarcía-Barcina, Maria J | |
| 773 | 0 |
_tBMC medical genetics _gvol. 12 _gp. 86 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/1471-2350-12-86 _zAvailable from publisher's website |
| 999 |
_c20961599 _d20961599 |
||