SGS

(redirected from FBN1)
Also found in: Dictionary, Thesaurus, Medical, Legal, Acronyms, Encyclopedia.
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.
References in periodicals archive ?
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).
In case of FBN1 regulation region, we studied four parts of regulation region indicated as FBN1(1), FBN1(2), FBN1(3.
Estas variantes definidas como mutaciones adicionales del FBN1 translocadas parecen acompanar a las mutaciones causales clasicas del SM; se ha sugerido que las mutaciones modificadoras, dentro de un modelo de cosegregacion familiar, cambian la gravedad del fenotipo de los individuos con SM en relacion con sus parientes afectados no portadores de las mismas.
The spectrum of overlapping disorders like EL (ectopia lentis), associated with FBN1 mutations, defines the molecular group of type1 fibrillinopathies (Oklu and Hesketh, 2000).
conotruncales y de Otros hallazgos son lesiones del lado paresia facial, derecho del corazon; anomalias renales, la Tetralofia de fisuras orofaciales Fallot y las y fistula comunicaciones traqueoesofagica auriculoventriculares son los defectos cianoticos mas comunes Sindrome de Down Trisomia 21 Trisomia 18 Trisomia 18 Trisomia 13 Trisomia 13 Sindrome de Turner Mosaicismo (46XX/ 45XO) es el mas frecuentement implicado, junto a la no disyuncion (45XO y monosomia parcia (46XX) Sindrome Marfan Herencia autosomica dominate, asociada al gen FBN1 del cromosoma 15.
Although the updated nosology does not require FBN1 testing, it "allows its appropriate use when available," according to the authors.
Marfan sendromu ile ayirici tanisi FBN1 mutasyonlarinin gorulmemesi ve otozomal baskin olmayip, Xie bagli kalitilmasi, lens subluksasyonun olmamasi, zeka geriliginin ve davranis sorunlarinin gorulmesi ile yapilabilir.