A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1

Shranjeno v:
Bibliografske podrobnosti
izdano v:Eur J Hum Genet
Main Authors: AME van der Beek, Nadine, Nelson, Isabelle, Froissart, Roseline, Levade, Thierry, Garcia, Virginie, Lacene, Emmanuelle, Boland, Anne, Masson, Cécile, Romero, Norma B., Stojkovic, Tanya, Bonne, Gisèle, Béhin, Anthony
Format: Artigo
Jezik:Inglês
Izdano: Springer International Publishing 2018
Teme:
Correspondence
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6460556/
https://ncbi.nlm.nih.gov/pubmed/30291339
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0250-z
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