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PMID: 16641205
Garmany TH, Moxley MA, White FV, Dean M, Hull WM, Whitsett JA, Nogee LM, Hamvas A
Surfactant composition and function in patients with ABCA3 mutations.
Pediatr Res. 2006 Jun;59(6):801-5. Epub 2006 Apr 26.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
66
ABCA3 p.Pro766Ser
X
ABCA3 p.Pro766Ser 16641205:66:620
status:
NEW
view ABCA3 p.Pro766Ser details
ABCA3 p.Pro766Ser
X
ABCA3 p.Pro766Ser 16641205:66:621
status:
NEW
view ABCA3 p.Pro766Ser details
ABCA3 p.Arg43Leu
X
ABCA3 p.Arg43Leu 16641205:66:796
status:
NEW
view ABCA3 p.Arg43Leu details
ABCA3 p.Arg43Leu
X
ABCA3 p.Arg43Leu 16641205:66:797
status:
NEW
view ABCA3 p.Arg43Leu details
ABCA3 p.Asp253Tyr
X
ABCA3 p.Asp253Tyr 16641205:66:271
status:
NEW
view ABCA3 p.Asp253Tyr details
ABCA3 p.Asp253Tyr
X
ABCA3 p.Asp253Tyr 16641205:66:272
status:
NEW
view ABCA3 p.Asp253Tyr details
ABCA3 p.Pro264Arg
X
ABCA3 p.Pro264Arg 16641205:66:801
status:
NEW
view ABCA3 p.Pro264Arg details
ABCA3 p.Pro264Arg
X
ABCA3 p.Pro264Arg 16641205:66:802
status:
NEW
view ABCA3 p.Pro264Arg details
ABCA3 p.Leu960Phe
X
ABCA3 p.Leu960Phe 16641205:66:626
status:
NEW
view ABCA3 p.Leu960Phe details
ABCA3 p.Leu960Phe
X
ABCA3 p.Leu960Phe 16641205:66:627
status:
NEW
view ABCA3 p.Leu960Phe details
ABCA3 p.Leu1595Pro
X
ABCA3 p.Leu1595Pro 16641205:66:264
status:
NEW
view ABCA3 p.Leu1595Pro details
ABCA3 p.Leu1595Pro
X
ABCA3 p.Leu1595Pro 16641205:66:265
status:
NEW
view ABCA3 p.Leu1595Pro details
ABCA3 p.Arg194Gly
X
ABCA3 p.Arg194Gly 16641205:66:191
status:
NEW
view ABCA3 p.Arg194Gly details
ABCA3 p.Arg194Gly
X
ABCA3 p.Arg194Gly 16641205:66:192
status:
NEW
view ABCA3 p.Arg194Gly details
ABCA3 p.Trp179Cys
X
ABCA3 p.Trp179Cys 16641205:66:696
status:
NEW
view ABCA3 p.Trp179Cys details
ABCA3 p.Trp179Cys
X
ABCA3 p.Trp179Cys 16641205:66:697
status:
NEW
view ABCA3 p.Trp179Cys details
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.
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