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1
Marfan syndrome is closely linked to a marker on chromosome 15q1.5----q2.1.
Proc Natl Acad Sci U S A. 1991 May 15;88(10):4486-8. doi: 10.1073/pnas.88.10.4486.
2
Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene.
Am J Hum Genet. 1991 Sep;49(3):662-7.
3
The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.
Genomics. 1991 Feb;9(2):355-61. doi: 10.1016/0888-7543(91)90264-f.
4
A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.
J Med Genet. 1992 Feb;29(2):75-80. doi: 10.1136/jmg.29.2.75.
5
Linkage analysis in Marfan syndrome.
J Med Genet. 1990 Feb;27(2):86-90. doi: 10.1136/jmg.27.2.86.
6
Location on chromosome 15 of the gene defect causing Marfan syndrome.
N Engl J Med. 1990 Oct 4;323(14):935-9. doi: 10.1056/NEJM199010043231402.
7
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study.
N Engl J Med. 1992 Apr 2;326(14):905-9. doi: 10.1056/NEJM199204023261401.
8
Marfan gene discovered.
Ann Med. 1991 Oct;23(4):395-6. doi: 10.3109/07853899109148080.
9
The Marfan syndrome gene locus as a favoured locus for susceptibility to schizophrenia.
Psychiatr Genet. 1994 Winter;4(4):219-27. doi: 10.1097/00041444-199400440-00006.
10
Linkage data for Marfan syndrome and markers on chromosomes 1 and 11.
J Med Genet. 1990 Feb;27(2):82-5. doi: 10.1136/jmg.27.2.82.
引用本文的文献
1
The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus.
BMC Med Genet. 2010 Oct 11;11:143. doi: 10.1186/1471-2350-11-143.
2
Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts.
Hum Genet. 1993 Jan;90(5):511-5. doi: 10.1007/BF00217450.
3
An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency.
Eur J Pediatr. 1993 May;152(5):428-32. doi: 10.1007/BF01955904.
4
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
Am J Hum Genet. 1995 Jul;57(1):8-21.
5
Understanding Marfan's syndrome.
BMJ. 1992 Jan 25;304(6821):255. doi: 10.1136/bmj.304.6821.255-b.
6
Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.
J Clin Invest. 1992 Jan;89(1):79-86. doi: 10.1172/JCI115589.
7
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.
Proc Natl Acad Sci U S A. 1992 Jul 1;89(13):5917-21. doi: 10.1073/pnas.89.13.5917.
8
Marfan syndrome in a large family: response of family members to a screening programme.
J Med Genet. 1992 Feb;29(2):81-5. doi: 10.1136/jmg.29.2.81.
9
A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.
J Med Genet. 1992 Feb;29(2):75-80. doi: 10.1136/jmg.29.2.75.
10
Marfan syndrome: a mystery solved.
J Med Genet. 1992 Feb;29(2):73-4. doi: 10.1136/jmg.29.2.73.
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Marfan syndrome. Demonstration of abnormal elastin in aorta.
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Studies on elastic tissue of aorta in aortic dissections and Marfan syndrome.
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Strategies for multilocus linkage analysis in humans.
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Life expectancy and causes of death in the Marfan syndrome.
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Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.
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Reduced activity of serum beta-glucuronidase in Marfan syndrome.
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A genetic linkage map of the human genome.
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