Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

Erstveröffentlichung

2013

Authors

Cooper, David N.

Krawczak, Michael

Polychronakos, Constantin

Tyler-Smith, Chris

Kehrer-Sawatzki, Hildegard

Wissenschaftlicher Artikel

Published in

Human Genetics ; 132 (2013), 10. - S. 1077-1130. - ISSN 0340-6717. - eISSN 1432-1203

Link to publication

https://dx.doi.org/10.1007/s00439-013-1331-2

Institutions

UKU. Institut für Humangenetik

Subject headings

[Free subject headings]: LONG QT SYNDROME | DOMINANT RETINITIS-PIGMENTOSA | FACTOR-V-LEIDEN | HEMOLYTIC-UREMIC SYNDROME | GENOME-WIDE ASSOCIATION | BREAST-CANCER RISK | LOSS-OF-FUNCTION | GENE-ENVIRONMENT INTERACTIONS | BARDET-BIEDL-SYNDROME | PULMONARY ARTERIAL-HYPERTENSION
[DDC subject group]: DDC 570 / Life sciences | DDC 610 / Medicine & health

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