نتایج جستجو برای: piebaldism

تعداد نتایج: 207  

Journal: :South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2013
Prashiela Manga Robyn Kerr Michèle Ramsay Jennifer G R Kromberg

Pigmentation disorders span the genetic spectrum from single-gene autosomal recessive disorders such as oculocutaneous albinism (OCA), the autosomal dominant disorder piebaldism to X-linked ocular albinism and multifactorial vitiligo. OCA connotes a group of disorders that result in hypopigmented skin due to decreased melanin production in melanocytes and loss of visual acuity. There are four n...

Journal: :Human molecular genetics 2000
F D Ciccarelli A Acciarito S Alberti

HIKE is a highly conserved sequence motif identified as a candidate pleckstrin-homology (PH) domain binding site in Gbeta proteins, protein kinases, ankyrin and kinesin. HIKE motifs occur also in gelsolin, neurogranin, neuromodulin and in the PH domain of Bruton tyrosin kinase (BTK). Phosphatidylinositol-binding sequences more distantly related to HIKE are present in gelsolin, in the G protein-...

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