The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor-Reference-Cited by-同舟云学术

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

Published:2017-12-22 Issue:2 Volume:176 Page:470-476
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Harms Frederike L.¹,Alawi Malik²³⁴,Amor David J.⁵⁶,Tan Tiong Y.⁵⁶,Cuturilo Goran⁷⁸,Lissewski Christina⁹,Brinkmann Julia⁹,Schanze Denny⁹,Kutsche Kerstin¹^ORCID,Zenker Martin⁹

Affiliation:

1. Institute of Human GeneticsUniversity Medical Center Hamburg‐EppendorfHamburgGermany

2. University Medical Center Hamburg‐EppendorfBioinformatics Core FacilityHamburgGermany

3. Center for BioinformaticsUniversity of HamburgHamburgGermany

4. Heinrich‐Pette‐InstituteLeibniz‐Institute for Experimental Virology, Virus GenomicsHamburgGermany

5. Murdoch Children's Research InstituteParkvilleAustralia

6. Department of PaediatricsUniversity of MelbourneParkvilleAustralia

7. Faculty of MedicineUniversity of BelgradeBelgradeSerbia

8. University Children's HospitalBelgradeSerbia

9. Institute of Human GeneticsUniversity Hospital MagdeburgMagdeburgGermany

Funder

Bundesministerium für Bildung und Forschung

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38569

Reference60 articles.

1. C-RAF Mutations Confer Resistance to RAF Inhibitors

2. Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

3. Recent advances in RASopathies

4. Trimmomatic: a flexible trimmer for Illumina sequence data

5. Acute lymphoblastic leukemia in the context of RASopathies

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