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piebaldism/phosphatase

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ČlankiKliničnih preskušanjPatenti
2 rezultatov

Tyrosinase and acid phosphatase activities in melanocytes from avian albinos.

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Prijava / prijava
Two forms of cutaneous albinism in the chicken were investigated for the presence and distribution of tyrosinase and acid phosphatase in melanocytes in situ and in culture. In sex-linked recessive tyrosinase-positive albinism, sal, melanocytes in regenerating feathers and neural tube-derived

Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred.

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Prijava / prijava
We have studied a large Mennonite kindred in which 20 members were affected with Hirschsprung disease (HSCR), 5 of whom had one or more manifestations of Waardenburg syndrome (WS) type II (WS2). Eleven additional relatives had signs of WS2 without HSCR. Since HSCR and WS2 each represent
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