Gene: [15q211/FBN1] fibrillin 1 (Marfan syndrome); Marfan syndrome 1 (MIM:154700); [FBN MFS1 MFS ]
FAG | The following fibrillin genes are mapped in human genome: FBN1, GEM:05q/FBN2; GEM:02p16/FBNL." |
REL | GEM:03p2/MFS2. |
HIS | This gene was originally mapped as Marfan syndrome locus (provisionally; MIM:154700) on the basis of the linkage with anonymous DNA markers of Chr 15 (D15S45; LOD score = 3.32 at theta of 0). The Committee on the Genetic Constitution of Chromosome 15 believes that MFS1 regional localization may be indicated more precisely: 15q15-22 (Donlon-1990)." |
REF | LIN,LOC,CLO "Black CM
&: Hum Mol Genet, 3, 1442, 1994 LIN,LOC,CLO "Clark BA &: NAR, 19, 4309, 1991 LIN,LOC,CLO "Dietz HC &: Genomics, 9, 355-361, 1991a LIN,LOC,CLO "Dietz HC &: Nature, 352, 337-339, 1991b HIS,LIN "Donlon TA, Malkolm: CCG, 55, (HGM10.5), 189-193, 1990 LIN,LOC,CLO "Hewett DR &: J Med Genet, 31, 338-339, 1994 LIN,LOC,CLO "Kainulainen K &: AJHG, 49, 662-667, 1991 LIN,LOC,CLO "Kainulainen K &: New Engl J Med, 323, 935-939, 1990 LIN,LOC,CLO "Lee B &: Nature, 352, 330-334, 1991 LIN,LOC,CLO "Maslen CL &: Nature, 352, 334-337, 1991 LIN,LOC,CLO "Tsipouras P &: PNAS, 88, 4486-4488, 1991 |
SWI | SWISSPROT: P35555 |
KEY | neu, ont, devd, bone, card |
CLA | coding, basic |
LOC | 15 q21.1 |
MIM | MIM: 134797 |
SYN | FBN MFS1 MFS |
