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Paper Details

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
Hum Mutat
17
2015
CDG, Congenital disorders of glycosylation, SSR4, SSR4 protein, Signal Sequence Receptor 4, X-linked gene, autosomal recessive disorders, neurological abnormalities, neurological disorder, patient, serum, transferrin
Author NameAffiliation
Bobby G NgSanford - Burnham - Prebys Medical Discovery Institute
Kimiyo RaymondMayo Clinic College of Medicine
Martin KircherUniversity of Washington
Kati J BuckinghamUniversity of Washington
Jay ShendureUniversity of Washington
Jay ShendureUniversity of Washington
Deborah A NickersonUniversity of Washington
Deborah A NickersonUniversity of Washington
Michael J BamshadUniversity of Washington
Michael J BamshadUniversity of Washington
Michael J BamshadUniversity of Washington
Michael J BamshadUniversity of Washington
Hudson H FreezeSanford - Burnham - Prebys Medical Discovery Institute
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Release 1.2