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Article

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia.

Chest - 1 Jul 2014

Kropski Jonathan A, Mitchell Daphne B, Markin Cheryl, Polosukhin Vasiliy V, Choi Leena, Johnson Joyce E, Lawson William E, Phillips John A, Cogan Joy D, Blackwell Timothy S, Loyd James E

Abstract excerpt

Short telomeres are frequently identified in patients with idiopathic pulmonary fibrosis (IPF) and its inherited form, familial interstitial pneumonia (FIP). We identified a kindred with FIP with short telomeres who did not carry a mutation in known FIP genes TERT or hTR . We performed targeted sequencing of other telomere-related genes to identify the genetic basis of FIP in this kindred. The proband was a 69...

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Source

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Identifiers

PMID: 24504062
DOI: 10.1378/chest.13-2224
PMCID: PMC4077414

Genes

DKC1
NHP2
NOP10
TERT
TINF2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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