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2007 | 1 |
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High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
J Med Genet. 2007 Nov;44(11):702-9. doi: 10.1136/jmg.2007.052506. Epub 2007 Sep 14.
J Med Genet. 2007.
PMID: 17873119
Free PMC article.
The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
Calva-Cerqueira D, Chinnathambi S, Pechman B, Bair J, Larsen-Haidle J, Howe JR.
Calva-Cerqueira D, et al.
Clin Genet. 2009 Jan;75(1):79-85. doi: 10.1111/j.1399-0004.2008.01091.x. Epub 2008 Sep 24.
Clin Genet. 2009.
PMID: 18823382
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Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
Gallione C, Aylsworth AS, Beis J, Berk T, Bernhardt B, Clark RD, Clericuzio C, Danesino C, Drautz J, Fahl J, Fan Z, Faughnan ME, Ganguly A, Garvie J, Henderson K, Kini U, Leedom T, Ludman M, Lux A, Maisenbacher M, Mazzucco S, Olivieri C, Ploos van Amstel JK, Prigoda-Lee N, Pyeritz RE, Reardon W, Vandezande K, Waldman JD, White RI Jr, Williams CA, Marchuk DA.
Gallione C, et al.
Am J Med Genet A. 2010 Feb;152A(2):333-9. doi: 10.1002/ajmg.a.33206.
Am J Med Genet A. 2010.
PMID: 20101697
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