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The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.
Sprecher E, Chavanas S, DiGiovanna JJ, Amin S, Nielsen K, Prendiville JS, Silverman R, Esterly NB, Spraker MK, Guelig E, de Luna ML, Williams ML, Buehler B, Siegfried EC, Van Maldergem L, Pfendner E, Bale SJ, Uitto J, Hovnanian A, Richard G. Sprecher E, et al. Among authors: nielsen k. J Invest Dermatol. 2001 Aug;117(2):179-87. doi: 10.1046/j.1523-1747.2001.01389.x. J Invest Dermatol. 2001. PMID: 11511292 Free article.
A lethal variant of osteogenesis imperfecta has a single base mutation that substitutes cysteine for glycine 904 of the alpha 1(I) chain of type I procollagen. The asymptomatic mother has an unidentified mutation producing an overmodified and unstable type I procollagen.
Constantinou CD, Nielsen KB, Prockop DJ. Constantinou CD, et al. Among authors: nielsen kb. J Clin Invest. 1989 Feb;83(2):574-84. doi: 10.1172/JCI113920. J Clin Invest. 1989. PMID: 2913053 Free PMC article.
2,786 results