Familial Pulmonary Fibrosis and Hermansky-Pudlak Syndrome Rare Missense Mutations in Context

Am J Respir Crit Care Med. 2019 Jul 15;200(2):253-256. doi: 10.1164/rccm.201902-0457LE.
No abstract available

Publication types

  • Letter

MeSH terms

  • Frameshift Mutation
  • Guanine Nucleotide Exchange Factors / genetics*
  • Guanine Nucleotide Exchange Factors / metabolism
  • Haplotypes
  • Hermanski-Pudlak Syndrome / complications
  • Hermanski-Pudlak Syndrome / genetics*
  • Hermanski-Pudlak Syndrome / metabolism
  • Humans
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Mutation, Missense
  • Pulmonary Fibrosis / etiology
  • Pulmonary Fibrosis / genetics*
  • Pulmonary Fibrosis / metabolism

Substances

  • Guanine Nucleotide Exchange Factors
  • HPS1 protein, human
  • HPS4 protein, human
  • Membrane Proteins