Open AccessA novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China
Author(s) -
Wenjuan Wu,
Keqin Lin,
Yanni Yang,
Zhifeng Dong,
Tao Zhang,
Lei Wen,
Weimin Ye,
Yang Zhou
Publication year - 2019
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000016899
Subject(s) - medicine , frameshift mutation , hermansky–pudlak syndrome , compound heterozygosity , pulmonary fibrosis , sanger sequencing , mutation , interstitial lung disease , pathology , genotype , lung , genetics , gastroenterology , gene , biology