Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome
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[1] P. Brennan. Revised diagnostic criteria for Marfan syndrome. , 2011, The journal of the Royal College of Physicians of Edinburgh.
[2] E. Arbustini,et al. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands , 2008, Journal of Medical Genetics.
[3] D. Judge,et al. Marfan's syndrome , 2005, The Lancet.
[4] L. Tavazzi,et al. Identification of sixty‐two novel and twelve known FBN1 mutations in eighty‐one unrelated probands with Marfan syndrome and other fibrillinopathies , 2005, Human mutation.
[5] R E Pyeritz,et al. Revised diagnostic criteria for the Marfan syndrome. , 1996, American journal of medical genetics.
[6] H. Tulczynska. [Marfan's syndrome]. , 1953, Pediatria polska.
[7] R. Punnett,et al. The journal of genetics , 1910, Zeitschrift für Induktive Abstammungs- und Vererbungslehre.