Genetische Untersuchungen bei funktionell-obstruktiver subvalvulärer Aortenstenose (irregulär hypertrophischer Kardiomyopathie)

Summary Family investigations have been carried out on 32 propositi with functional obstructive subvalvular aortic stenosis. In the families of 15 propositors members were further-more affected. According to our own observations as well as to the literature this heart disease shows an autosomal domi... Ausführliche Beschreibung

1. Person: Jörgensen, Gerhard
Quelle: in Human genetics Vol. 6 (1968), p. 13-28
Weitere Artikel
Format: Online-Artikel
Sprache: German
Veröffentlicht: 1968
Beschreibung: Online-Ressource
Online Zugang: Online
Volltext
Tags: Hinzufügen
Keine Tags. Fügen Sie den ersten Tag hinzu!
Anmerkung: Copyright: Copyright 1968 Springer-Verlag
LEADER 01936nma a2200289 c 4500
001 NLEJ205602304
003 DE-601
005 20110128213702.0
007 cr uuu---uuuuu
008 070528s1968 000 0 ger d
016 7 |a 14591881  |2 DE-600 
040 |b ger  |c GBVCP 
041 0 |a ger 
084 |a soj  |2 natliz 
245 0 0 |a Genetische Untersuchungen bei funktionell-obstruktiver subvalvulärer Aortenstenose (irregulär hypertrophischer Kardiomyopathie)  |h Elektronische Ressource 
300 |a Online-Ressource 
500 |a Copyright: Copyright 1968 Springer-Verlag 
520 |a Summary Family investigations have been carried out on 32 propositi with functional obstructive subvalvular aortic stenosis. In the families of 15 propositors members were further-more affected. According to our own observations as well as to the literature this heart disease shows an autosomal dominant mode of inheritance with a reduced penetrance and variable manifestations. Using the maximum-likelihood-method, the risk of the brothers or sisters to be affected is calculated as being between $$\hat p = 0.287 \pm 0.0215$$ (k=0, rmin=1) and $$\hat p = 0.320 \pm 0.0748$$ (k=1, rmin=1). The probability of parents in the “familial” observations to be affected is between 32.9±8.1 and 33.3±8.1. Only one half of the cases observed are “familial”, the others are “sporadic”. It is not impossible, that a part of the sporadic cases could be dominant mutants, because the mean age of the fathers at the birth is higher than expected. 
533 |a Online edition  |f Springer Online Journal Archives 1860-2002 ; 041039-1 
700 1 |a Jörgensen, Gerhard 
773 0 8 |i in  |t Human genetics <Berlin>  |g Vol. 6 (1968), p. 13-28  |q 6<13-28  |w (DE-601)NLEJ188992812  |x 1432-1203 
856 4 0 |u http://dx.doi.org/10.1007/BF00287150 
901 |a OLC 
912 |a ZDB-1-SOJ 
912 |a GBV_NL_ARTICLE 
951 |a AR 
952 |d 6  |j 1968  |c 1  |h 13-28  |g 16 

Ähnliche Einträge

Keine ähnlichen Titel gefunden

Privacy Notice Ask a Librarian New Acquisitions