Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype.
Saved in:
| Title: | Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype. |
|---|---|
| Authors: | Lebaron S; Molecular, Cellular and Developmental biology department (MCD), Centre de Biologie Intégrative (CBI), University of Toulouse, CNRS, UT3, Toulouse, France., O'Donohue MF; Molecular, Cellular and Developmental biology department (MCD), Centre de Biologie Intégrative (CBI), University of Toulouse, CNRS, UT3, Toulouse, France., Smith SC; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA., Engleman KL; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri, USA., Juusola J; GeneDx Inc., Gaithersburg, Maryland, USA., Safina NP; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Department of Pediatrics, Children's Mercy Hospital, Kansas City, Missouri, USA., Thiffault I; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA., Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA., Gleizes PE; Molecular, Cellular and Developmental biology department (MCD), Centre de Biologie Intégrative (CBI), University of Toulouse, CNRS, UT3, Toulouse, France. |
| Source: | Human mutation [Hum Mutat] 2022 Mar; Vol. 43 (3), pp. 389-402. Date of Electronic Publication: 2022 Jan 23. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1098-1004 |
|---|---|
| DOI: | 10.1002/humu.24323 |
