Gene symbol: CTSC. Disease: Papillon-Lefevre syndrome


نویسندگان : Wouter Beertsen de Haar SF Maziar Mir Nguyen M Bahram Kazemi Gholam Hossein Ramezani Vincent Everts

چکیده :

Missense/Nonsense Mutations (single base-pair substitutions) Accession Number Hm040133 Codon Number 7 Nucleotide Substitution CAT – CGT Amino acid Substitution His – Arg Comments: The mutation directly affects one of the amino acid residues of the active site of the enzyme.

کلید واژگان :

Albinism, Oculocutaneous 1



ارزش ریالی : 600000 ریال
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