In-Depth Analysis of Hyaline Fibromatosis Syndrome Frameshift Mutations at the Same Site Reveal the Necessity of Personalized Therapy-Reference-Cited by-同舟云学术

In-Depth Analysis of Hyaline Fibromatosis Syndrome Frameshift Mutations at the Same Site Reveal the Necessity of Personalized Therapy

Published:2013-04-19 Issue:7 Volume:34 Page:1005-1017
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Yan Shixu E.¹,Lemmin Thomas²,Salvi Suzanne¹,Lausch Ekkehart³,Superti-Furga Andrea⁴,Rokicki Dariusz⁵,Dal Peraro Matteo²,van der Goot F. Gisou¹

Affiliation:

1. Global Health Institute; Ecole Polytechnique Fédérale de Lausanne (EPFL); Lausanne Switzerland

2. Institute of Bioengineering; Ecole Polytechnique Fédérale de Lausanne (EPFL); Lausanne Switzerland

3. Department of Pediatrics; University of Freiburg; Freiburg Germany

4. Division of Molecular Pediatrics; Centre Hospitalier Universitaire Vaudois, University of Lausanne; Switzerland

5. Division of Inborn Errors of Metabolism; Children's Memorial Health Institute; Warsaw Poland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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5. Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation;Molecular Genetics & Genomic Medicine;2020-03-20