<i>NOTCH1</i> mutations in three independent families.
- Christoph Preuss (164736)
- Melanie Capredon (3228459)
- Florian Wünnemann (3228471)
- Philippe Chetaille (137777)
- Andrea Prince (3228468)
- Beatrice Godard (2742439)
- Severine Leclerc (3228465)
- Nara Sobreira (3228462)
- Hua Ling (235402)
- Philip Awadalla (21228)
- Maryse Thibeault (137772)
- Paul Khairy (137782)
- Mark E. Samuels (243000)
- Gregor Andelfinger (137816)
Publication date
October 2016
DOIAbstract
<p><b>(A)</b> Pedigrees of families harboring high impact <i>NOTCH1</i> mutations. Colors represent the different phenotype associations. The (+/-) symbols indicate mutation carrier status. <b>(B)</b> Schematic representation of the <i>NOTCH1</i> locus. Clustering of protein truncating mutations is observed in the extracellular part of the protein in the EGF domains 1–36.</p
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