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Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.
Dauber, Andrew; Stoler, Joan; Hechter, Eliana; Safer, Jason; Hirschhorn, Joel N.
Affiliation
  • Dauber A; Division of Endocrinology, Children's Hospital Boston, Boston, MA, 02115, USA. andrew.dauber@childrens.harvard.edu
J Pediatr ; 162(1): 202-4.e1, 2013 Jan.
Article in En | MEDLINE | ID: mdl-22974575
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Full text: 1 Database: MEDLINE Main subject: Frameshift Mutation / Sequence Analysis, DNA / Cullin Proteins / Dwarfism / Exome / Growth Disorders / Muscle Hypotonia Type of study: Diagnostic_studies Limits: Adult / Humans / Male Language: En Year: 2013 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Frameshift Mutation / Sequence Analysis, DNA / Cullin Proteins / Dwarfism / Exome / Growth Disorders / Muscle Hypotonia Type of study: Diagnostic_studies Limits: Adult / Humans / Male Language: En Year: 2013 Type: Article