Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool
We developed a new candidate gene approach for pulmonary arterial hypertension based on a customized kit and new sequencing technologies. In this manner we identified mutations in routinely assessed genes and one additional gene in PAH patients.
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
9 September 2016
|
| In: |
Clinical science
Year: 2016, Volume: 130, Issue: 22, Pages: 2043-2052 |
| ISSN: | 1470-8736 |
| DOI: | 10.1042/CS20160531 |
| Online Access: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1042/CS20160531 |
| Author Notes: | Jie Song, Christina A. Eichstaedt, Rebecca Rodríguez Viales, Nicola Benjamin, Satenik Harutyunova, Christine Fischer, Ekkehard Grünig and Katrin Hinderhofer |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1698008015 | ||
| 003 | DE-627 | ||
| 005 | 20220818082046.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 200512s2016 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1042/CS20160531 |2 doi | |
| 035 | |a (DE-627)1698008015 | ||
| 035 | |a (DE-599)KXP1698008015 | ||
| 035 | |a (OCoLC)1341319639 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Song, Jie |d 1988- |e VerfasserIn |0 (DE-588)1119831946 |0 (DE-627)872920712 |0 (DE-576)480020795 |4 aut | |
| 245 | 1 | 0 | |a Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool |c Jie Song, Christina A. Eichstaedt, Rebecca Rodríguez Viales, Nicola Benjamin, Satenik Harutyunova, Christine Fischer, Ekkehard Grünig and Katrin Hinderhofer |
| 264 | 1 | |c 9 September 2016 | |
| 300 | |a 10 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 12.05.2020 | ||
| 520 | |a We developed a new candidate gene approach for pulmonary arterial hypertension based on a customized kit and new sequencing technologies. In this manner we identified mutations in routinely assessed genes and one additional gene in PAH patients. | ||
| 700 | 1 | |a Eichstaedt, Christina |e VerfasserIn |0 (DE-588)1110189419 |0 (DE-627)864806752 |0 (DE-576)47573503X |4 aut | |
| 700 | 1 | |a Rodríguez Viales, Rebecca |e VerfasserIn |0 (DE-588)104447615X |0 (DE-627)772079692 |0 (DE-576)39768830X |4 aut | |
| 700 | 1 | |a Benjamin, Nicola |d 1981- |e VerfasserIn |0 (DE-588)1031704345 |0 (DE-627)737155302 |0 (DE-576)379407388 |4 aut | |
| 700 | 1 | |a Harutyunova, Satenik |d 1982- |e VerfasserIn |0 (DE-588)1119826160 |0 (DE-627)872910342 |0 (DE-576)480011184 |4 aut | |
| 700 | 1 | |a Fischer, Christine |d 1955- |e VerfasserIn |0 (DE-588)128461993 |0 (DE-627)373010362 |0 (DE-576)297159674 |4 aut | |
| 700 | 1 | |a Grünig, Ekkehard |e VerfasserIn |0 (DE-588)112535801 |0 (DE-627)618892605 |0 (DE-576)31856694X |4 aut | |
| 700 | 1 | |a Hinderhofer, Katrin |d 1968- |e VerfasserIn |0 (DE-588)120651440 |0 (DE-627)704897490 |0 (DE-576)292322577 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Clinical science |d London : Portland, 1970 |g 130(2016), 22, Seite 2043-2052 |h Online-Ressource |w (DE-627)301116199 |w (DE-600)1484392-4 |w (DE-576)306828685 |x 1470-8736 |7 nnas |a Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool |
| 773 | 1 | 8 | |g volume:130 |g year:2016 |g number:22 |g pages:2043-2052 |g extent:10 |a Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool |
| 856 | 4 | 0 | |u https://doi.org/10.1042/CS20160531 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20200512 | ||
| 993 | |a Article | ||
| 994 | |a 2016 | ||
| 998 | |g 120651440 |a Hinderhofer, Katrin |m 120651440:Hinderhofer, Katrin |d 910000 |d 911500 |e 910000PH120651440 |e 911500PH120651440 |k 0/910000/ |k 1/910000/911500/ |p 8 |y j | ||
| 998 | |g 112535801 |a Grünig, Ekkehard |m 112535801:Grünig, Ekkehard |d 910000 |d 950000 |d 950900 |e 910000PG112535801 |e 950000PG112535801 |e 950900PG112535801 |k 0/910000/ |k 1/910000/950000/ |k 2/910000/950000/950900/ |p 7 | ||
| 998 | |g 128461993 |a Fischer, Christine |m 128461993:Fischer, Christine |d 910000 |d 911500 |e 910000PF128461993 |e 911500PF128461993 |k 0/910000/ |k 1/910000/911500/ |p 6 | ||
| 998 | |g 1119826160 |a Harutyunova, Satenik |m 1119826160:Harutyunova, Satenik |d 910000 |d 950000 |d 950900 |e 910000PH1119826160 |e 950000PH1119826160 |e 950900PH1119826160 |k 0/910000/ |k 1/910000/950000/ |k 2/910000/950000/950900/ |p 5 | ||
| 998 | |g 1031704345 |a Benjamin, Nicola |m 1031704345:Benjamin, Nicola |d 910000 |d 950000 |d 950900 |e 910000PB1031704345 |e 950000PB1031704345 |e 950900PB1031704345 |k 0/910000/ |k 1/910000/950000/ |k 2/910000/950000/950900/ |p 4 | ||
| 998 | |g 104447615X |a Rodríguez Viales, Rebecca |m 104447615X:Rodríguez Viales, Rebecca |d 910000 |d 950000 |d 950900 |e 910000PR104447615X |e 950000PR104447615X |e 950900PR104447615X |k 0/910000/ |k 1/910000/950000/ |k 2/910000/950000/950900/ |p 3 | ||
| 998 | |g 1110189419 |a Eichstaedt, Christina |m 1110189419:Eichstaedt, Christina |d 910000 |d 950000 |d 950900 |e 910000PE1110189419 |e 950000PE1110189419 |e 950900PE1110189419 |k 0/910000/ |k 1/910000/950000/ |k 2/910000/950000/950900/ |p 2 | ||
| 998 | |g 1119831946 |a Song, Jie |m 1119831946:Song, Jie |d 910000 |d 950000 |d 950900 |e 910000PS1119831946 |e 950000PS1119831946 |e 950900PS1119831946 |k 0/910000/ |k 1/910000/950000/ |k 2/910000/950000/950900/ |p 1 |x j | ||
| 999 | |a KXP-PPN1698008015 |e 3664821769 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"title":[{"title_sort":"Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool","title":"Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool"}],"relHost":[{"recId":"301116199","language":["eng"],"note":["Gesehen am 14.04.2025","Fortsetzung der Druck-Ausgabe"],"origin":[{"publisherPlace":"London","dateIssuedKey":"1970","publisher":"Portland","dateIssuedDisp":"1970-"}],"pubHistory":["Nachgewiesen 38.1970 -"],"name":{"displayForm":["Medical Research Society ; Biochemical Society"]},"disp":"Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic toolClinical science","titleAlt":[{"title":"Clinical science online"},{"title":"Clinical science and molecular medicine"}],"part":{"issue":"22","pages":"2043-2052","text":"130(2016), 22, Seite 2043-2052","volume":"130","year":"2016","extent":"10"},"id":{"eki":["301116199"],"issn":["1470-8736"],"zdb":["1484392-4"]},"physDesc":[{"extent":"Online-Ressource"}],"title":[{"subtitle":"online ; an international journal of clinical & molecular investigation","title_sort":"Clinical science","title":"Clinical science"}],"type":{"bibl":"periodical","media":"Online-Ressource"}}],"physDesc":[{"extent":"10 S."}],"type":{"media":"Online-Ressource","bibl":"article-journal"},"id":{"doi":["10.1042/CS20160531"],"eki":["1698008015"]},"person":[{"role":"aut","given":"Jie","family":"Song","display":"Song, Jie"},{"role":"aut","given":"Christina","family":"Eichstaedt","display":"Eichstaedt, Christina"},{"role":"aut","given":"Rebecca","family":"Rodríguez Viales","display":"Rodríguez Viales, Rebecca"},{"given":"Nicola","role":"aut","display":"Benjamin, Nicola","family":"Benjamin"},{"role":"aut","given":"Satenik","family":"Harutyunova","display":"Harutyunova, Satenik"},{"display":"Fischer, Christine","family":"Fischer","given":"Christine","role":"aut"},{"role":"aut","given":"Ekkehard","family":"Grünig","display":"Grünig, Ekkehard"},{"display":"Hinderhofer, Katrin","family":"Hinderhofer","given":"Katrin","role":"aut"}],"origin":[{"dateIssuedKey":"2016","dateIssuedDisp":"9 September 2016"}],"recId":"1698008015","language":["eng"],"note":["Gesehen am 12.05.2020"],"name":{"displayForm":["Jie Song, Christina A. Eichstaedt, Rebecca Rodríguez Viales, Nicola Benjamin, Satenik Harutyunova, Christine Fischer, Ekkehard Grünig and Katrin Hinderhofer"]}} | ||
| SRT | |a SONGJIEEICIDENTIFICA9201 | ||