A glycogene mutation map for discovery of diseases of glycosylation

Glycobiology

Volumn 25, Issue 2, 2015, Pages 211-224

  Hansen, Lars ^a   Lind Thomsen, Allan ^b   Joshi, Hiren J ^a   Pedersen, Nis Borbye ^a   Have, Christian Theil ^c   Kong, Yun ^a   Wang, Shengjun ^a   Sparso, Thomas ^c   Grarup, Niels ^c   Vester Christensen, Malene Bech ^a   Schjoldager, Katrine ^a   Freeze, Hudson H ^d   Hansen, Torben ^c   Pedersen, Oluf ^c   Henrissat, Bernard ^a,e   Mandel, Ulla ^a   Clausen, Henrik ^a   Wandall, Hans H ^a   Bennett, Eric P ^a  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c Capital Region   (Denmark)

^d BURNHAM INSTITUTE   (United States)

^e AIX MARSEILLE UNIVERSITY   (France)

Author keywords

damaging mutations; glycogens; MAF; nonsynonymous mutations; nsSNV

Indexed keywords

CARBOHYDRATE; G PROTEIN COUPLED RECEPTOR; GLYCOGEN; GLYCOSIDASE; GLYCOSYLTRANSFERASE; HISTONE; ISOENZYME; PHOSPHOMANNOMUTASE; PROTEIN KINASE;

ALGORITHM; ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; ENZYME GLYCOSYLATION; EXOME; GENE FREQUENCY; GENE FUNCTION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC STABILITY; GLUCONEOGENESIS; GLYCOGENE MUTATION MAP; HUMAN; MISSENSE MUTATION; POPULATION; PRIORITY JOURNAL; VALIDATION PROCESS; WHOLE EXOME SEQUENCE; CHROMOSOME MAP; GENETIC DATABASE; GENETICS; GENOMIC INSTABILITY; GLYCOSYLATION; HUMAN GENOME; MOLECULAR GENETICS; MUTATION; PROTEIN PROCESSING; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME MAPPING; CONGENITAL DISORDERS OF GLYCOSYLATION; DATABASES, GENETIC; GENETIC ASSOCIATION STUDIES; GENOME, HUMAN; GENOMIC INSTABILITY; GLYCOSYLATION; GLYCOSYLTRANSFERASES; HUMANS; MOLECULAR SEQUENCE ANNOTATION; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 84945178167     PISSN: 09596658     EISSN: 14602423     Source Type: Journal    
DOI: 10.1093/glycob/cwu104     Document Type: Article

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