Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (β4GalT-7) gene

Biochemical Genetics

Volumn 43, Issue 1-2, 2005, Pages 65-77

  Götte, Martin ^a   Kresse, Hans ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Decorin; Dermatan sulfate; Galactosyltransferase deficiency; Glycosaminoglycan; Proteoglycan

Indexed keywords

BETA4 GALACTOSYLTRANSFERASE; CHONDROITIN ABC LYASE; DECORIN; GALACTOSYLTRANSFERASE; GLYCOSAMINOGLYCAN; PROTEOGLYCAN; UNCLASSIFIED DRUG;

ALLELE; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; EHLERS DANLOS SYNDROME; ENZYME SUBUNIT; HETEROZYGOSITY; NONHUMAN; PHENOTYPE; POINT MUTATION; PROTEIN EXPRESSION; SKIN DEFECT; SUBSTITUTION REACTION; WILD TYPE; WOUND HEALING;

ANIMALS; CHO CELLS; COCKAYNE SYNDROME; CRICETINAE; EHLERS-DANLOS SYNDROME; EXTRACELLULAR MATRIX PROTEINS; GALACTOSYLTRANSFERASES; GLYCOSAMINOGLYCANS; HUMANS; POINT MUTATION; PROTEOGLYCANS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSFECTION;

EID: 15244344893     PISSN: 00062928     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10528-005-1068-2     Document Type: Article

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