Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)-Reference-Cited by-同舟云学术

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)

Published:2019-11-20 Issue:11-12 Volume:138 Page:1409-1417
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Llaci Lorida,Ramsey Keri,Belnap Newell,Claasen Ana M.,Balak Chris D.,Szelinger Szabolcs,Jepsen Wayne M.,Siniard Ashley L.,Richholt Ryan,Izat Tyler,Naymik Marcus,De Both Matt,Piras Ignazio S.,Craig David W.,Huentelman Matthew J.,Narayanan Vinodh,Schrauwen Isabelle,Rangasamy Sampathkumar^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-019-02077-7.pdf

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