ABCA3 p.Arg194Gly
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 16641205
[PubMed]
Garmany TH et al: "Surfactant composition and function in patients with ABCA3 mutations."
No.
Sentence
Comment
66
ABCA3 patient data Patient Sex Age at sample acquisition (mo) Allele 1 Allele 2 Histopathologic diagnosis PC/lipid (%) Surface tension (mN/m) Lipid/ protein SP-A (g)* SP-B (ng)* 1 M 5 R194G delF1203 Chronic pneumonitis of infancy 59.6 28 0.76 533 448 2 F 3 L1595P D253Y Interstitial pneumonitis/alveolar hypoplasia NA NA NA 21.3 212 3 F 5 1112-20 GϾA 3163del10 Pulmonary alveolar proteinosis/interstitial pneumonitis 25.4 37.8 0.33 60.8 66.5 4 F 2 M1I delE203 Interstitial pneumonitis 31.2 34.6 0.39 68 24 5 M 15 1126ins15 1866del25 Interstitial fibrosis/interstitial pneumonitis 23.8 28.5 0.43 NA 18 6 F 3 P766S-L960F 1729delTC Pulmonary alveolar proteinosis NA NA NA 135 193 7 F 4 W179C 1382delTG Interstitial pneumonitis/dysmature alveolar segments 78.1 11.1 0.48 51.9 59.1 8 F 4 R43L P264R Chronic interstitial pneumonitis 39.8 34.3 0.25 22.7 40 NA, not available.
X
ABCA3 p.Arg194Gly 16641205:66:191
status: NEW