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Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
McLarren, Keith W; Severson, Tesa M; du Souich, Christèle; Stockton, David W; Kratz, Lisa E; Cunningham, David; Hendson, Glenda; Morin, Ryan D; Wu, Diane; Paul, Jessica E; An, Jianghong; Nelson, Tanya N; Chou, Athena; DeBarber, Andrea E; Merkens, Louise S; Michaud, Jacques L; Waters, Paula J; Yin, Jingyi; McGillivray, Barbara; Demos, Michelle; Rouleau, Guy A; Grzeschik, Karl-Heinz; Smith, Raffaella; Tarpey, Patrick S; Shears, Debbie; Schwartz, Charles E; Gecz, Jozef; Stratton, Michael R; Arbour, Laura; Hurlburt, Jane; Van Allen, Margot I; Herman, Gail E; Zhao, Yongjun; Moore, Richard; Kelley, Richard I; Jones, Steven J M; Steiner, Robert D; Raymond, F Lucy; Marra, Marco A; Boerkoel, Cornelius F.
Affiliation
  • McLarren KW; Department of Medical Genetics, Vancouver, Canada.
Am J Hum Genet ; 87(6): 905-14, 2010 Dec 10.
Article in En | MEDLINE | ID: mdl-21129721
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Temperature / Abnormalities, Multiple / Genetic Diseases, X-Linked / Alleles / 3-Hydroxysteroid Dehydrogenases Type of study: Diagnostic_studies Limits: Adolescent / Adult / Animals / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2010 Type: Article Affiliation country: Canada
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Temperature / Abnormalities, Multiple / Genetic Diseases, X-Linked / Alleles / 3-Hydroxysteroid Dehydrogenases Type of study: Diagnostic_studies Limits: Adolescent / Adult / Animals / Female / Humans / Male Language: En Journal: Am J Hum Genet Year: 2010 Type: Article Affiliation country: Canada