ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes
Schindlbeck, Ulrike, Wittmann, Thomas, Höppner, Stefanie, Kinting, Susanna, Liebisch, Gerhard
, Hegermann, Jan and Griese, Matthias
(2018)
ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.
Human Mutation 39 (6), pp. 841-850.
Date of publication of this fulltext: 28 Jul 2021 17:15
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| Item type | Article | ||||
| Journal or Publication Title | Human Mutation | ||||
| Publisher: | Wiley | ||||
|---|---|---|---|---|---|
| Place of Publication: | HOBOKEN | ||||
| Volume: | 39 | ||||
| Number of Issue or Book Chapter: | 6 | ||||
| Page Range: | pp. 841-850 | ||||
| Date | 2018 | ||||
| Institutions | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin | ||||
| Identification Number |
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| Keywords | INTERSTITIAL LUNG-DISEASE; RESPIRATORY-DISTRESS-SYNDROME; BINDING CASSETTE PROTEIN; PULMONARY SURFACTANT; LIPID TRANSPORTER; INTRACELLULAR VESICLES; EPITHELIAL-CELLS; II CELLS; DEFICIENCY; CHILDREN; ATP-binding cassette transporters; human ABCA3 protein; interstitial lung diseases; respiratory distress syndrome of the newborn; surfactant dysfunction | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 47112 |
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