Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter-Reference-Cited by-同舟云学术

Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter

Published:2020-03-24 Issue:13 Volume:59 Page:1367-1377
ISSN:0006-2960
Container-title:Biochemistry
language:en
Short-container-title:Biochemistry

Author:

Salazar Martin D.¹,Zelt Nathan B.¹,Saldivar Robert¹,Kuntz Charles P.¹,Chen Sheng¹,Penn Wesley D.¹,Bonneau Richard²³⁴⁵,Koehler Leman Julia²^ORCID,Schlebach Jonathan P.¹^ORCID

Affiliation:

1. Department of Chemistry, Indiana University, Bloomington, Indiana 47405, United States

2. Center for Computational Biology, Flatiron Institute, Simons Foundation, New York, New York 10010, United States

3. Department of Biology, New York University, New York, New York 10003, United States

4. Department of Computer Science, New York University, New York, New York 10012, United States

5. Center for Data Science, New York University, New York, New York 10011, United States

Publisher

American Chemical Society (ACS)

Subject

Biochemistry

Link

https://pubs.acs.org/doi/pdf/10.1021/acs.biochem.9b00956

Reference38 articles.

1. The epidemiology of mental retardation: Challenges and opportunities in the new millennium

2. The prevalence of mental retardation: a critical review of recent literature

3. X-linked mental retardation

4. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

5. High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

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