MUTATIONS IN SPINK5 RESPONSIBLE FOR NETHERTON'S SYNDROME AND ATOPIC DISEASES
摘要
The invention relates to the identification of the <i>SPINK5</i> gene as the gene which is mutated in the autosomal recessive genetic skin condition Netherton's Syndrome and as a susceptibility gene for atopic disease in general. Genetic screens, therapeutic products and Nucleic acids and proteins corresponding to mutant versions of the SPINK5 cDNA and expression product are all described.
申请公布号
WO0164747(A1)
申请公布日期
2001.09.07
申请号
WO2001GB00897
申请日期
2001.03.02
申请人
ISIS INNOVATION LIMITED;HOVNANIAN, ALAIN;CHAVANAS, STEPHANE;COOKSON, WILLIAM;MOFFAT, MIRIAM;WALLEY, ANDREW
发明人
HOVNANIAN, ALAIN;CHAVANAS, STEPHANE;COOKSON, WILLIAM;MOFFAT, MIRIAM;WALLEY, ANDREW