Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia

American Journal of Medical Genetics, Part A

Volumn 146, Issue 16, 2008, Pages 2103-2108

  Barone, Rita ^a,b   Sturiale, Luisa ^a   Sofia, Vito ^b   Ignoto, Antonella ^b   Fiumara, Agata ^b   Sorge, Giovanni ^b   Garozzo, Domenico ^a   Zappia, Mario ^b  

^a CNR   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

Author keywords

CDG; Clinical phenotype; Congenital disorder of glycosylation; Glycosylation analysis; Mass spectrometry; PMM2 mutations

Indexed keywords

ALPHA 1 ANTITRYPSIN; GLYCOPROTEIN; TRANSFERRIN;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; DISEASE SEVERITY; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DETERMINATION; PROTEIN GLYCOSYLATION; SIBLING;

ADULT; ALPHA 1-ANTITRYPSIN; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; GLYCOPROTEINS; GLYCOSYLATION; HUMANS; MALE; MUTATION; PHENOTYPE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); POLYSACCHARIDES; SIBLINGS; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION; TRANSFERRIN;

EID: 49449111753     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32446     Document Type: Article

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