Article
Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders.
American journal of human genetics - 1 Aug 1998
Giraud S, Zhang C X, Serova-Sinilnikova O, Wautot V, Salandre J, Buisson N, Waterlot C, Bauters C, Porchet N, Aubert J P, Emy P, Cadiot G, Delemer B, Chabre O, Niccoli P, Leprat F, Duron F, Emperauger B, Cougard P, Goudet P, Sarfati E, Riou J P, Guichard S, Rodier M, Meyrier A, Caron P, Vantyghem M C, Assayag M, Peix J L, Pugeat M, Rohmer V, Vallotton M, Lenoir G, Gaudray P, Proye C, Conte-Devolx B, Chanson P, Shugart Y Y, Goldgar D, Murat A, Calender A
Abstract excerpt
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome predisposing to tumors of the parathyroid, endocrine pancreas, anterior pituitary, adrenal glands, and diffuse neuroendocrine tissues. The MEN1 gene has been assigned, by linkage analysis and loss of heterozygosity, to c...
Topics
- Amino Acid Substitution
- Exons
- Female
- Genetic Carrier Screening
- Germ-Line Mutation
- Humans
- Introns
- Male
- Multiple Endocrine Neoplasia