Expansion of germline RPS20 mutation phenotype to include Diamond–Blackfan anemia-Reference-Cited by-同舟云学术

Expansion of germline RPS20 mutation phenotype to include Diamond–Blackfan anemia

Published:2020-08-30 Issue:11 Volume:41 Page:1918-1930
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bhar Saleh¹,Zhou Fujun²,Reineke Lucas C.³,Morris Danna K.¹,Khincha Payal P.⁴,Giri Neelam⁴,Mirabello Lisa⁴,Bergstrom Katie¹,Lemon Laramie D.⁵,Williams Christopher L.¹,Toh Yukimatsu¹,Elghetany M. Tarek⁶,Lloyd Richard E.³,Alter Blanche P.⁴,Savage Sharon A.⁴^ORCID,Bertuch Alison A.¹^ORCID

Affiliation:

1. Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine Texas Children's Hospital Houston Texas

2. Laboratory on the Mechanism and Regulation of Protein Synthesis Eunice Kennedy Shriver National Institute of Child Health and Development Bethesda Maryland

3. Department of Molecular Virology and Microbiology Baylor College of Medicine Houston Texas

4. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute National Institutes of Health Bethesda Maryland

5. Integrative Molecular and Biomedical Sciences Graduate Program Baylor College of Medicine Houston Texas

6. Department of Pathology, Baylor College of Medicine Texas Children's Hospital Houston Texas

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24092

Reference60 articles.

1. A method and server for predicting damaging missense mutations

2. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

3. Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency

4. The ribosomal basis of diamond-blackfan anemia: mutation and database update

5. Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients—a Systematic Review

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