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A comprehensive resequence analysis of theKLK15–KLK3–KLK2locus on chromosome 19q13.33

✍ Scribed by Hemang Parikh; Zuoming Deng; Meredith Yeager; Joseph Boland; Casey Matthews; Jinping Jia; Irene Collins; Ariel White; Laura Burdett; Amy Hutchinson; Liqun Qi; Jennifer A. Bacior; Victor Lonsberry; Matthew J. Rodesch; Jeffrey A. Jeddeloh; Thomas J. Albert; Heather A. Halvensleben; Timothy T. Harkins; Jiyoung Ahn; Sonja I. Berndt; Nilanjan Chatterjee; Robert Hoover; Gilles Thomas; David J. Hunter; Richard B. Hayes; Stephen J. Chanock; Laufey Amundadottir

Publisher: Springer
Year: 2009
Tongue: English
Weight: 439 KB
Volume: 127
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-009-0751-5

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✍ Armand Bottani; Yagang Xie; Frank Binkert; Albert Schinzel 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 570 KB

A mentally retarded boy with discrete physical findings, Hirschsprung disease (HD) and a microdeletion of 13q,del(13)(q32.3q33.2) is described. Band 13q33.1 was consistently missing in all cells. There have been, to date, 4 published cases of deletions involving the long arm of chromosome 13 associa