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Este enfoque reconoceria que las mutaciones clasicas (patologicas) del FBN1 pueden tambien presentarse en parientes del caso indice que pasarian inadvertidos dado el chance de copresencia o no de algun tipo de mutacion modificadora (no enmarcada dentro de los criterios Ghent) que enmascare su cuadro clinico y que de paso catalogue inicialmente de forma erronea un caso indice como de novo ante la no evidencia clinica de familiares afectados.
Gene linkage analysis might provide an answer when identifying individuals from families with Marfan syndrome, but mutation analysis can be time consuming and costly because FBN1 is a large gene with mRNA containing 10 000 nucleotides.
4 Human genes: CBS, cystathionine-beta-synthase; MTRR, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase; MTR, 5-methyltetrahydrofolate-homocysteine methyltransferase; MMACHC, methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria; MMADHC, methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria; LMBRD1, LMBR1 domain containing 1; FBN1, fibrillin 1.
5) The polymerase chain reaction (PCR), denaturing high-performance liquid chromatography (dHPLC) analysis and direct sequencing were carried out in order to perform mutation screening involving 65 exons in the FBN1 gene.
Marfan's syndrome is linked to the gene labeled as FBN1 (Finkbohner et al.
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, sequence variants in Marfan syndrome and related connective tissue disorders.
Enzymatic mutation detection (EMD TM) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease.