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Osteogenesis imperfecta: translation of mutation to phenotype.
Department of Pathology, University of Washington, Seattle 98195.
PMID: 1895312 [PubMed - indexed for MEDLINE]
PMCID: PMC1016951
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Cited by 28 PubMed Central articles
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High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta.
Cabral WA, Marini JC.
Am J Hum Genet. 2004 Apr; 74(4):752-60. Epub 2004 Mar 11.
[Am J Hum Genet. 2004]
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Destabilization of osteogenesis imperfecta collagen-like model peptides correlates with the identity of the residue replacing glycine.
Beck K, Chan VC, Shenoy N, Kirkpatrick A, Ramshaw JA, Brodsky B.
Proc Natl Acad Sci U S A. 2000 Apr 11; 97(8):4273-8.
[Proc Natl Acad Sci U S A. 2000]
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Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.
Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet L, Cochat P, Grünfeld JP, Palcoux JB, Gubler MC, Antignac C.
Am J Hum Genet. 1998 Nov; 63(5):1329-40.
[Am J Hum Genet. 1998]
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