COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.

Human mutation

Volumn 30, Issue 2, 2009, Pages

  Symoens, Sofie ^a   Malfait, Fransiska ^a   Renard, Marjolijn ^a   André, Josette ^a   Hausser, Ingrid ^a   Loeys, Bart ^a   Coucke, Paul ^a   De Paepe, Anne ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

COL5A1 PROTEIN, HUMAN; COLLAGEN TYPE 5; FIBRILLAR COLLAGEN; MUTANT PROTEIN; SIGNAL PEPTIDE;

ADULT; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CELL LINE; CHEMISTRY; CHILD; EHLERS DANLOS SYNDROME; FEMALE; GENETICS; HETEROZYGOTE; HUMAN; IMMUNOBLOTTING; INFANT; MALE; MOLECULAR GENETICS; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PLASMID; PRESCHOOL CHILD; SECRETION; ULTRASTRUCTURE;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CELL LINE; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE V; DNA MUTATIONAL ANALYSIS; EHLERS-DANLOS SYNDROME; FEMALE; FIBRILLAR COLLAGENS; HETEROZYGOTE; HUMANS; IMMUNOBLOTTING; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; PLASMIDS; PROTEIN SORTING SIGNALS;

EID: 64049085421     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.20887     Document Type: Article

References (0)