| 000 | 01388 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250518054142.0 | ||
| 264 | 0 | _c20190903 | |
| 008 | 201909s 0 0 eng d | ||
| 022 | _a1536-5964 | ||
| 024 | 7 |
_a10.1097/MD.0000000000016899 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWu, Wenjuan | |
| 245 | 0 | 0 |
_aA novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China. _h[electronic resource] |
| 260 |
_bMedicine _cAug 2019 |
||
| 300 |
_ae16899 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Observational Study | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChina |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aGenetic Testing |
| 650 | 0 | 4 | _aGuanine Nucleotide Exchange Factors |
| 650 | 0 | 4 |
_aHermanski-Pudlak Syndrome _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIdiopathic Pulmonary Fibrosis _xdiagnostic imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aProteins _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSiblings |
| 700 | 1 | _aLin, Keqin | |
| 700 | 1 | _aYang, Yanni | |
| 700 | 1 | _aDong, ZhaoXing | |
| 700 | 1 | _aZhang, Tao | |
| 700 | 1 | _aLei, Wen | |
| 700 | 1 | _aYang, Weimin | |
| 700 | 1 | _aYang, Zhaoqing | |
| 773 | 0 |
_tMedicine _gvol. 98 _gno. 33 _gp. e16899 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1097/MD.0000000000016899 _zAvailable from publisher's website |
| 999 |
_c30008256 _d30008256 |
||