|
|
Volumn 164, Issue 7, 2014, Pages viii-ix
|
|
Mutations in NGLY1 gene linked with new genetic disorder: parents' reports of children's symptoms help facilitate the discovery
[No Author Info available]
|
|
Author keywords
[No Author keywords available]
|
|
Indexed keywords
GLYCOPEPTIDASE;
GENETIC ASSOCIATION;
GENETIC DISEASES, INBORN;
GENETICS;
HUMAN;
MUTATION;
PARENT;
PHENOTYPE;
GENETIC ASSOCIATION STUDIES;
GENETIC DISEASES, INBORN;
HUMANS;
MUTATION;
PARENTS;
PEPTIDE-N4-(N-ACETYL-BETA-GLUCOSAMINYL) ASPARAGINE AMIDASE;
PHENOTYPE;
|
|
EID: 84939435408
PISSN: None
EISSN: 15524833
Source Type: Journal
DOI: 10.1002/ajmg.a.36644 Document Type: Note |
|
Times cited : (4)
|
|
References (0)
|