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MEN-2) Hereditary hemochromatosis HFE (C282Y, H63D) Familial adenomatous APC polyposis of the colon Cystic fibrosis CFTR Canavan disease ASPA Fragile X syndrome FMR1 Alpha-1-antitrypsin PI (ATT) deficiency Neurofibromatosis NF 1, NF 2 Marfan's syndrome FBN1 Osteogenesis imperfecta COL1A1, COL1A2 types I-IV Myotonic dystrophy DM 1 Adult polycystic kidney PKD1, PKD2, PKHD1 disease DISEASE INCIDENCE/PREVALENCE Huntington's disease 1 in 1,000 (carriers); 30,000 have the disease RET oncogene (multiple Approximately 200 new cases endocrine neoplasia type-2.
Further investigation revealed that the MS FBN1 protein interacted directly with the proteins of four of the 88 genes - fibulin 1 (FBLN1), fibulin 2 (FBLN2), Decorin (DCN) and microfibrillar associated protein 5 (MFAPS5).
The determinant gene FBN1 is situated at the chromosomal locus 15q21.