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Identification of BPESC1, a Novel Gene Disrupted by a Balanced Chromosomal Translocation, t(3;4)(q23;p15.2), in a Patient with BPES

✍ Scribed by Elfride De Baere; Yoshimitsu Fukushima; Kent Small; Nitin Udar; Guy Van Camp; Kristien Verhoeven; Aarno Palotie; Anne De Paepe; Ludwine Messiaen


Book ID
115615219
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
471 KB
Volume
68
Category
Article
ISSN
0888-7543

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Characterization of a familial t(16;22)
✍ Robyn V. Jamieson; Nicola Farrar; Katrina Stewart; Rahat Perveen; Marija Mihelec πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 275 KB πŸ‘ 1 views

## Communicated by Jurgen Horst Molecular characterization of chromosomal rearrangements is a powerful resource in identification of genes associated with monogenic disorders. We describe the molecular characterization of a balanced familial chromosomal translocation, t(16;22)(p13.3;q11.2), segreg