Authors:
TILLER GE
POLUMBO PA
WEIS MA
BOGAERT R
LACHMAN RS
COHN DH
RIMOIN DL
EYRE DR
Citation: Ge. Tiller et al., DOMINANT MUTATIONS IN THE TYPE-II COLLAGEN GENE, COL2A1, PRODUCE SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE, Nature genetics, 11(1), 1995, pp. 87-89
Authors:
WILKIN DJ
BOGAERT R
LACHMAN RS
RIMOIN DL
EYRE DR
COHN DH
Citation: Dj. Wilkin et al., A SINGLE AMINO-ACID SUBSTITUTION (G103D) IN THE TYPE-II COLLAGEN TRIPLE-HELIX PRODUCES KNIEST DYSPLASIA, Human molecular genetics, 3(11), 1994, pp. 1999-2003
Authors:
BOGAERT R
WILKIN D
WILCOX WR
LACHMAN R
RIMOIN D
COHN DH
EYRE DR
Citation: R. Bogaert et al., EXPRESSION, IN CARTILAGE, OF A 7-AMINO-ACID DELETION IN TYPE-II COLLAGEN FROM 2 UNRELATED INDIVIDUALS WITH KNIEST-DYSPLASIA, American journal of human genetics, 55(6), 1994, pp. 1128-1136