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Very mild lamellar ichthyosis with compound heterozygous TGM1 mutations including the novel missense mutation p.Leu693Phe.
- Source :
-
Journal of dermatological science [J Dermatol Sci] 2013 Nov; Vol. 72 (2), pp. 197-9. Date of Electronic Publication: 2013 Jul 10. - Publication Year :
- 2013
- Subjects :
- Amino Acid Sequence
Arginine chemistry
Base Sequence
DNA Mutational Analysis
Humans
Infant
Infant, Newborn
Leucine genetics
Male
Molecular Sequence Data
Mutation
Phenylalanine genetics
Prognosis
Protein Structure, Tertiary
Sequence Homology, Amino Acid
Heterozygote
Ichthyosis, Lamellar genetics
Infant, Newborn, Diseases genetics
Mutation, Missense
Transglutaminases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1873-569X
- Volume :
- 72
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Journal of dermatological science
- Publication Type :
- Report
- Accession number :
- 23895935
- Full Text :
- https://doi.org/10.1016/j.jdermsci.2013.06.013