SGS

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Related to FBN1: Fibrillin, Marfan syndrome

SGS

GOST 7.67 Latin three-letter geocode for the South Georgia and South Sandwich Islands. The code is used for transactions to and from local bank accounts and for international shipping to South Georgia and South Sandwich Islands. As with all GOST 7.67 codes, it is used primarily in Cyrillic alphabets.
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References in periodicals archive ?
Loeys et al., "Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study," The American Journal of Human Genetics, vol.
Nevertheless, exome sequencing identified the presence of de novo heterozygous FBN1 variants in both patients.
Ansaldi et al., "Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies," Human Mutation, vol.
In conclusion, the c.3037G>A mutation in FBN1 has been previously reported as pathogenic, resulting in either severe or atypically severe or neonatal forms of MFS (6,7).
Guo et al., "Detection of SNCA and FBN1 methylation in the stool as a biomarker for colorectal cancer," Disease Markers, vol.
Marfan syndrome is caused by mutations in the FBN1 gene on chromosome 15, which encodes the protein fibrillin-1.
This list includes ADHFE1, ALX4, CNRIP1, EID3, ELMO1, ESR1, FBN1, HLTF, LAMM, NEUROG1, NGFR, RARB, RXRG, RYR2, SDC2, SEPT9, SFRP2, SOCS3, SOX17, THBD, TMEFF2, UCHL1, and VIM genes.
UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity – Application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.