Sort by

Send to:

Choose Destination

Results: 4

Cited In for PubMed (Select 8723098)


Genetic disorders of the skeleton: a developmental approach.

Kornak U, Mundlos S.

Am J Hum Genet. 2003 Sep;73(3):447-74. Epub 2003 Jul 31. Review.


Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.

Richards AJ, Baguley DM, Yates JR, Lane C, Nicol M, Harper PS, Scott JD, Snead MP.

Am J Hum Genet. 2000 Nov;67(5):1083-94. Epub 2000 Sep 25.


Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.

Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH.

J Med Genet. 2000 Apr;37(4):263-71.


Collagen II is essential for the removal of the notochord and the formation of intervertebral discs.

Aszódi A, Chan D, Hunziker E, Bateman JF, Fässler R.

J Cell Biol. 1998 Nov 30;143(5):1399-412.

Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk