Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism-Reference-Cited by-同舟云学术

Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism

Published:2015-07-16 Issue:1 Volume:16 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Liu Wei,Wong John KL,He Qiuming,Wong Emily HM,Tang Clara SM,Zhang Ruizhong,So Man-ting,Wong Kenneth KY,Nicholls John,Cherny Stacey S,Sham Pak C,Tam Paul K,Garcia-Barcelo Maria-Mercè,Xia Huimin

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12881-015-0189-7/fulltext.html

Reference22 articles.

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3. Segal Y, Peissel B, Renieri A, De Marchi M, Ballabio A, Pei Y, Zhou J. Line-1 elements at the sites of molecular rearrangements in alport syndrome-diffuse leiomyomatosis. Am J Hum Genet. 1999;64:62–9.

4. Thielen BK, Barker DF, Nelson RD, Zhou J, Kren SM, Segal Y. Deletion mapping in alport syndrome and alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth. Hum Mutat. 2003;22:419.

5. Oohashi T, Naito I, Ueki Y, Yamatsuji T, Permpoon R, Tanaka N, Naomoto Y, Ninomiya Y. Clonal overgrowth of esophageal smooth muscle cells in diffuse leiomyomatosis-alport syndrome caused by partial deletion in col4a5 and col4a6 genes. Matrix Biol J Int Soc Matrix Biol. 2011;30:3–8.

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