Article
Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes.
Nature genetics - 1 Oct 1993
Rogaev E I, Rogaeva E A, Ginter E K, Korovaitseva G I, Farrer L A, Shlensky A B, Pritkov A N, Mordovtsev V N, St George-Hyslop P H
Abstract excerpt
Familial keratosis palmaris et plantaris (KPPF) is characterized by extreme keratinization and desquamation of the skin of the palmar and plantar surfaces of the hands and feet. We have mapped the causative genetic defect to an 8 cM interval on 17q12-24 in or close to the acidic keratin (type I) gene cluster. We show that KPPF co-segregates with a rare, high molecular weight allele of an insertion-deletion...
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