Associated Papers
The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III).
Beyzaei Z et al.
Orphanet Journal of Rare Diseases, 2022
Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma.
Hannah-Shmouni F et al.
Molecular Genetics and Metabolism Reports, 2019
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
Peña-Quintana L et al.
Clinical Genetics, 2017
Computing disease-linked SOD1 mutations: deciphering protein stability and patient-phenotype relations.
Kumar V et al.
Scientific Reports, 2017
28680046 (PubMed )
Supplement: 41598_2017_4950_MOESM1_ESM.pdf
Mutational analysis of the human 2B4 (CD244)/CD48 interaction: Lys68 and Glu70 in the V domain of 2B4 are critical for CD48 binding and functional activation of NK cells.
Mathew SO et al.
Journal of Immunology (baltimore, Md. : 1950), 2005
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