Yazar "Kavaslar, GN" seçeneğine göre listele

Listeleniyor 1 - 1 / 1
  • [ X ]
    Öğe
    The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1
    (Univ Chicago Press, 2000) Kavaslar, GN; Önengüt, S; Derman, O; Kaya, A; Tolun, A
    We studied a large consanguineous Anatolian family with children who exhibited hydranencephaly associated with microcephaly. The children were severely affected. This novel genetic disorder is autosomal recessive. We used autozygosity mapping to identify a locus at chromosome 16p13.3-12.1; it has a LOD score of 4.11. The gene locus is within a maximal 11-cM interval between markers D16S497 and D16S672 and within a minimal critical region of 8 cM between markers D16S748 and D16S490.