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References

These sources were used to develop the Genetics Home Reference gene summary on the CRTAP gene.

Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med. 2006 Dec 28;355(26):2757-64. PubMed citation
Entrez Gene
Labuda M, Morissette J, Ward LM, Rauch F, Lalic L, Roughley PJ, Glorieux FH. Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. Bone. 2002 Jul;31(1):19-25. PubMed citation
Marini JC, Cabral WA, Barnes AM, Chang W. Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development. Cell Cycle. 2007 Jul 15;6(14):1675-81. Epub 2007 May 18. Review. PubMed citation
Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, Bächinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B. CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell. 2006 Oct 20;127(2):291-304. PubMed citation
OMIM: CARTILAGE-ASSOCIATED PROTEIN
Tonachini L, Morello R, Monticone M, Skaug J, Scherer SW, Cancedda R, Castagnola P. cDNA cloning, characterization and chromosome mapping of the gene encoding human cartilage associated protein (CRTAP). Cytogenet Cell Genet. 1999;87(3-4):191-4. PubMed citation
Ward LM, Rauch F, Travers R, Chabot G, Azouz EM, Lalic L, Roughley PJ, Glorieux FH. Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone. 2002 Jul;31(1):12-8. PubMed citation


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