The deletion of six amino acids at the C-terminus of the α1(II) chain causes overmodification of type II and type XI collagen: Further evidence for the association between small deletions in COL2A1 and Kniest dysplasia

Journal of Medical Genetics

Volumn 33, Issue 8, 1996, Pages 649-654

  Winterpacht, Andreas ^a   Superti Furga, Andrea ^b   Schwarze, Ulrike ^a   Stöss, Hartmut ^c   Steinmann, Beat ^b   Spranger, Jürgen ^a   Zabel, Bernhard ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c St Jonannis Stift   (Germany)

Author keywords

COL2A1; Collagen; Kniest dysplasia

Indexed keywords

COLLAGEN TYPE 11; COLLAGEN TYPE 2; MUTANT PROTEIN; PROCOLLAGEN;

ARTICLE; BONE MARROW BIOPSY; CARBOXY TERMINAL SEQUENCE; CARTILAGE; CARTILAGE CELL; CASE REPORT; CHILD; CHONDRODYSPLASIA; ENDOPLASMIC RETICULUM; GENE DELETION; HUMAN; HUMAN CELL; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PROCESSING; PROTEIN SECRETION;

AMINO ACID SEQUENCE; BASE SEQUENCE; CARTILAGE; CELLS, CULTURED; CHILD, PRESCHOOL; COLLAGEN; DNA MUTATIONAL ANALYSIS; ENDOPLASMIC RETICULUM, ROUGH; EXONS; GENES; HUMANS; ILIUM; INCLUSION BODIES; MALE; MOLECULAR SEQUENCE DATA; OSTEOCHONDRODYSPLASIAS; PROCOLLAGEN; SEQUENCE DELETION;

EID: 0029740807     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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