De novo mutations in PURA are associated with hypotonia and developmental delay

PURA is the leading candidate gene responsible for the developmental phenotype in the 5q31.3 microdeletion syndrome. De novo mutations in PURA were recently reported in 15 individuals with developmental features similar to the 5q31.3 microdeletion syndrome. Here we describe six unrelated children wh...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Tanaka, Akemi J., Bai, Renkui, Cho, Megan T., Anyane-Yeboa, Kwame, Ahimaz, Priyanka, Wilson, Ashley L., Kendall, Fran, Hay, Beverly, Moss, Timothy, Nardini, Monica, Bauer, Mislen, Retterer, Kyle, Juusola, Jane, Chung, Wendy K.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2015
Assuntos:
Research Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4850890/
https://ncbi.nlm.nih.gov/pubmed/27148565
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a000356
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados