ABCA1 p.Gln188Leu
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 26186947
[PubMed]
Mulugeta S et al: "Lost after translation: insights from pulmonary surfactant for understanding the role of alveolar epithelial dysfunction and cellular quality control in fibrotic lung disease."
No.
Sentence
Comment
134
Shortly after, a second report described a different SFTPC mutation resulting in substitution of glutamine for leucine at position 188 of the SP-C propeptide (SP-CL188Q ) in a large kindred of whom the biopsies of 11 adults showed IPF/UIP patterns and nonspecific interstitial pneumonia (NSIP) patterns were present in three children.
X
ABCA1 p.Gln188Leu 26186947:134:97
status: NEW