| 000 | 01391 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250516020358.0 | ||
| 264 | 0 | _c20110517 | |
| 008 | 201105s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.33778 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRavenscroft, Jane C | |
| 245 | 0 | 0 |
_aAutosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cJan 2011 |
||
| 300 |
_a235-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aChilblains _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenes, Dominant _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLupus Erythematosus, Cutaneous _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMonomeric GTP-Binding Proteins _xgenetics |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSAM Domain and HD Domain-Containing Protein 1 |
| 700 | 1 | _aSuri, Mohnish | |
| 700 | 1 | _aRice, Gillian I | |
| 700 | 1 | _aSzynkiewicz, Marcin | |
| 700 | 1 | _aCrow, Yanick J | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 155A _gno. 1 _gp. 235-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.33778 _zAvailable from publisher's website |
| 999 |
_c20490207 _d20490207 |
||