Mendelian CNV mutations [electronic resource] / Ir. Joris Vermeesch.
Material type:
FilmSeries: Henry Stewart talksBiomedical & life sciences collection. Copy number variation: Publisher: London : Henry Stewart Talks, 2009Description: 1 online resource (1 streaming video file (33 min.) : color, sound)Other title: Mendelian copy number variation mutationsSubject(s): Gene Dosage | Genetic Diseases, Inborn | Genetic Variation | Mental Retardation -- etiology | Mutation -- geneticsOnline resources: Click here to access online | Series Animated audio-visual presentation with synchonized narration.
Title from title frames.
Contents: Copy number variation has now been shown to be a major cause of human genetic variation -- It has been implicated as the main cause of mental retardation disorders -- The boundary between benign and malignant copy number variations is blurring -- This is because certain CNVs can be benign but cause genetic disorders dependent on copy number state, sex and genetic background -- We coin them "Mendelian CNVs" -- An overview of autosomal recessive, dominant, X-linked and imprinted CNVs -- Diagnostic and clinical consequences.
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Mode of access: World Wide Web.