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机译:
Albert Einstein Coll Med;
CoxHlth;
机译:PAPA‐like syndrome with heterozygous mutation in the MEFV gene
机译:Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene
机译:Papillon-Lefevre syndrome (PLS) with novel compound heterozygous mutation in the exclusion and Peptidase C1A domains of Cathepsin C gene
机译:a novel type of familial hypercholesterolemia: Double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene