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5 Diagnósticos diferenciales para > 99% de las mutaciones: FGFR3, G380R

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  • Hipocondroplasia

    In achondroplasia more than 95% of the cases studied to date carry the same mutation (G380R).[scielo.conicyt.cl] The G1138A, G1138C (G380R), and C1620, C1620A (N540K) mutations and the nucleotide changes at the 650 locus were studied using PCR and restriction analysis of genomic DNA.[scielo.conicyt.cl] Aim : To assess the frequency of N540K and G380R mutations, and changes at the 650 locus in Chilean patients with idiopathic disproportionate short stature, hypochondroplasia[scielo.conicyt.cl]

    Faltante: > 99% de las mutaciones: FGFR3
  • Microdeleción del cromosoma 17q11

    PAI) a) Analisis mutación (669-698) en gen HMBS c) Secuenciación completa gen HMBS d) Identificacion familiar por secuenciación HMBS Acondroplasia a) Estudio PCR mutacion (G380R[kipdf.com]

    Faltante: > 99% de las mutaciones: FGFR3
  • Condrodisplasia punctata autosómica dominante

    Achondroplasia is defined by recurrent G380R mutations of R3FCF. Am J Hum Genet 1995;56:368-73. 13.[bioline.org.br]

    Faltante: > 99% de las mutaciones: FGFR3
  • Síndrome de costillas cortas - polidactilia

    Achondroplasia is defined by recurrent G380R mutations of R3FCF. Am J Hum Genet 1995;56:368-73. 13.[bioline.org.br]

    Faltante: > 99% de las mutaciones: FGFR3
  • Condrodisplasia metafisaria tipo Kaitila

    In achondroplasia more than 95% of the cases studied to date carry the same mutation (G380R).[scielo.conicyt.cl] The G1138A, G1138C (G380R), and C1620, C1620A (N540K) mutations and the nucleotide changes at the 650 locus were studied using PCR and restriction analysis of genomic DNA.[scielo.conicyt.cl] Aim : To assess the frequency of N540K and G380R mutations, and changes at the 650 locus in Chilean patients with idiopathic disproportionate short stature, hypochondroplasia[scielo.conicyt.cl]

    Faltante: > 99% de las mutaciones: FGFR3

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