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Mutation Analysis of CHRNA1, CHRNB1, CHRND, and RAPSN Genes in Multiple Pterygium Syndrome/Fetal Akinesia Patients

✍ Scribed by Julie Vogt; Benjamin J. Harrison; Hayley Spearman; Judy Cossins; Sascha Vermeer; Lambert Naudin ten Cate; Neil V. Morgan; David Beeson; Eamonn R. Maher


Book ID
116195574
Publisher
American Society of Human Genetics
Year
2008
Tongue
English
Weight
642 KB
Volume
82
Category
Article
ISSN
0002-9297

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Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized by tumors in parathyroids, enteropancreatic endocrine tissues, anterior pituitary, and other tissues. The gene for MEN1 has recently been cloned and shown to code for a 610-amino acid protein of enigmatic func