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The genetics of brachyolmia: between cilia and cell volume regulation
Author(s) -
Stein RA
Publication year - 2009
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2008.01140_1.x
Subject(s) - cilium , genetics , biology , medical genetics , molecular genetics , mutation , gene
Gain‐of‐function mutations in TRPV4 cause autosomal dominant brachyolmia
Rock et al. (2008)
Nature Genetics 40 (8): 999–1003