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Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa
Authors: Dasouki, M.; Markova, D.; Garola, R.; Sasaki, T.; Charbonneau, N. L.; Sakai, L. Y.; Chu, M. L.
Date of Publication (YYYY-MM-DD): 2007-11-15
Title of Journal: American Journal of Medical Genetics Part A
Volume: 143A
Issue / Number: 22
Start Page: 2635
End Page: 2641
Document Type: Article
ID: 328037.0
Fibulins: A versatile family of extracellular matrix proteins
Authors: Timpl, R.; Sasaki, T.; Kostka, G.; Chu, M. L.
Date of Publication (YYYY-MM-DD): 2003-06
Title of Journal: Nature Reviews Molecular Cell Biology
Volume: 4
Issue / Number: 6
Start Page: 479
End Page: 489
Document Type: Article
ID: 119417.0
Genetic heterogeneity of cutis laxa: A heterozygous tandem duplication within the fibulin-5 (FBLN5) gene
Authors: Markova, D.; Zou, Y. Q.; Ringpfeil, F.; Sasaki, T.; Kostka, G.; Timpl, R.; Uitto, J.; Chu, M. L.
Date of Publication (YYYY-MM-DD): 2003-04
Title of Journal: American Journal of Human Genetics
Volume: 72
Issue / Number: 4
Start Page: 998
End Page: 1004
Document Type: Article
ID: 41702.0
Entries: 1-3  
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