Netherton syndrome: Disease expression and spectrum of SPINK5 mutations in 21 families
Bitoun E, Chavanas S, Irvine AD et al. Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol 2002 118 : 352 61.
Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping
Chavanas S, Garner C, Bodemer C et al. Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping. Am J Hum Genet 2000 66 : 914 21.
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 et al. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol 2001 117 : 179 87.
LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome
Bitoun E, Micheloni A, Lamant L et al. LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome. Hum Mol Genet 2003 12 : 2417 30.
SPINK5 and Netherton syndrome: Novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases
Raghunath M, Tontsidou L, Oji V et al. SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases. J Invest Dermatol 2004 123 : 474 83.