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Further Reading
Collod‐Beroud G, Le Bourdelles S, Ades L, et al. (2003) Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database. Human Mutation 22: 199–208.
Corson GM, Chalberg SC, Dietz HC, Charbonneau NL and Sakai LY (1993) Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end. Genomics 17: 476–484.
Farber C, Gross S, Neesen J, Buiting K and Horsthemke B (2000) Identification of a testis‐specific gene (C15orf2) in the Prader–Willi syndrome region on chromosome 15. Genomics 65: 174–183.
Henkhaus, RS, Feinberg, AP, Niemitz, EL, and Butler, MG(2011) Imprinting Disorders (eLS). John Wiley & Sons Ltd, Chichester, UK. http://www.els.net 10.1002/9780470015902.a0005477.pub2
Howard HC, Mount DB, Rochefort D, et al. (2002) The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nature Genetics 32: 384–392.
Imamura O, Fujita K, Shimamoto A, et al. (2001) Bloom helicase is involved in DNA surveillance in early S phase in vertebrate cells. Oncogene 20: 1143–1151.
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Liu, Y., Zaghloul, NA, and Katsanis, N(2007) Bardet–Biedl Syndrome, an Oligogenic Disease (eLS). John Wiley & Sons Ltd, Chichester, UK. http://www.els.net 10.1002/9780470015902.a0020227
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Tropak, M., and Mahuran, DJ (2010) Tay–Sachs Disease (eLS). John Wiley & Sons Ltd, Chichester, UK. http://www.els.net 10.1002/9780470015902.a0006019.pub2
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