Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico-Reference-Cited by-同舟云学术

Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico

Published:2018-08 Issue:7 Volume:40 Page:530-536
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Fernández-Lainez Cynthia,Ibarra-González Isabel,Alcántara-Ortigoza Miguel Ángel,Fernández-Hernández Liliana,Enríquez-Flores Sergio,González-del Ángel Ariadna,Blau Nenad,Thöny Beat,Guillén-López Sara,Belmont-Martínez Leticia,Ruiz-García Matilde,Vela-Amieva Marcela

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

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3. Genotypic spectrum underlying tetrahydrobiopterin metabolism defects: Experience in a single Mexican reference center;Frontiers in Genetics;2022-10-12

4. In silico analysis and the pathogenicity classification of PTS gene variants among Iranian population;Egyptian Journal of Medical Human Genetics;2022-09-15

5. Combined Dystonia With Self-Mutilation in 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: A Case Report;Movement Disorders Clinical Practice;2018-11-08