Novel ALDH3A2 Heterozygous Mutations Are Associated with Defective Lamellar Granule Formation in a Japanese Family of Sjögren–Larsson Syndrome
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
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3. Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis;Akiyama;J Invest Dermatol,2001
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