A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome

Genomics

Volumn 36, Issue 3, 1996, Pages 468-475

  Lönnqvist, Lasse ^a   Karttunen, Leena ^a   Rantamäki, Terhi ^a   Kielty, Cay ^b   Raghunath, Michael ^c   Peltonen, Leena ^a  

^a NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN;

ARTICLE; CASE REPORT; EXTRACELLULAR MATRIX; HUMAN; MALE; MARFAN SYNDROME; NEWBORN; POINT MUTATION; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN EXPRESSION; PROTEIN GLYCOSYLATION; PROTEIN PROCESSING;

EID: 0030587439     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0492     Document Type: Article

References (36)

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