Software and database for the analysis of mutations in the human FBN1 gene.

Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were described at first in the heritable connective tissue disorder, Marfan syndrome (MFS). More recently, FBN1 has also been shown to harbor mutations related to a spectrum of con...

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Xehetasun bibliografikoak

Argitaratua izan da:	Nucleic Acids Res
Egile Nagusiak:	Collod, G, Béroud, C, Soussi, T, Junien, C, Boileau, C
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Oxford University Press 1996
Gaiak:	Research Article
Sarrera elektronikoa:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC145600/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8594563/ https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/24.1.137
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