| 000 | 01645 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250514064601.0 | ||
| 264 | 0 | _c20031224 | |
| 008 | 200312s 0 0 eng d | ||
| 022 | _a1552-4825 | ||
| 024 | 7 |
_a10.1002/ajmg.a.20023 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBaralle, Diana | |
| 245 | 0 | 0 |
_aDifferent mutations in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cMay 2003 |
||
| 300 |
_a1-8 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aGenes, Neurofibromatosis 1 |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIntracellular Signaling Peptides and Proteins |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aNeurofibromatoses _xgenetics |
| 650 | 0 | 4 |
_aNoonan Syndrome _xgenetics |
| 650 | 0 | 4 | _aProtein Tyrosine Phosphatase, Non-Receptor Type 1 |
| 650 | 0 | 4 | _aProtein Tyrosine Phosphatase, Non-Receptor Type 11 |
| 650 | 0 | 4 |
_aProtein Tyrosine Phosphatases _xgenetics |
| 700 | 1 | _aMattocks, Chris | |
| 700 | 1 | _aKalidas, Kamini | |
| 700 | 1 | _aElmslie, Frances | |
| 700 | 1 | _aWhittaker, Joanne | |
| 700 | 1 | _aLees, Melissa | |
| 700 | 1 | _aRagge, Nicola | |
| 700 | 1 | _aPatton, Michael A | |
| 700 | 1 | _aWinter, Robin M | |
| 700 | 1 | _affrench-Constant, Charles | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 119A _gno. 1 _gp. 1-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.20023 _zAvailable from publisher's website |
| 999 |
_c12499300 _d12499300 |
||