Associated Papers
Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease.
Zhang AQ et al.
Experimental and Therapeutic Medicine, 2021
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
El Sissy C et al.
Frontiers in Immunology, 2019
31440263 (PubMed )
Supplement: Table_1.DOCX
Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.
Beckers A et al.
Endocrine Reviews, 2013
The HNF-1alpha-SNARE connection.
Yamagata K et al.
Diabetes, Obesity & Metabolism, 2007
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.
Dobson CM et al.
Human Molecular Genetics, 2002
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