Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism

Journal of Inherited Metabolic Disease

Volumn 23, Issue 4, 2000, Pages 399-403

  Knopf, C ^a   Rod, R ^d   Jaeken, J ^b   Berant, M ^a   Van Schaftingen, E ^c   Fryns, J P ^b   Brill Zamir, R ^a   Gershoni Baruch, R ^a   Lischinsky, S ^a   Mandel, H ^a  

^a RAMBAM MEDICAL CENTER   (Israel)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^d Rambam Medical Center ^*

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOPROTEIN; MANNOSE PHOSPHATE ISOMERASE; MUTANT PROTEIN; PHOSPHOMANNOMUTASE; SIALIC ACID; TRANSFERRIN;

CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL DISORDER OF GLYCOSYLATION; ENZYME DEFICIENCY; FEMALE; FIBROBLAST CULTURE; GLYCOSYLATION; HUMAN; HUMAN CELL; ISOELECTRIC FOCUSING; KARYOTYPE; MOSAICISM; PRESCHOOL CHILD; TRISOMY 7;

ALPHA 1-ANTITRYPSIN; BETA-N-ACETYLHEXOSAMINIDASE; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 7; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INCONTINENTIA PIGMENTI; ISOELECTRIC FOCUSING; MANNOSE-6-PHOSPHATE ISOMERASE; MOSAICISM; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); PROTEIN ISOFORMS; TRANSFERRIN; TRISOMY;

EID: 0034096942     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005612120886     Document Type: Conference Paper

References (13)

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