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Griscelli Syndrome Restricted To Hypopigmentation Results From A Melanophilin Defect (Gs3) Or A Myo5A F-Exon Deletion (Gs1)
(Amer Soc Clinical Investigation Inc, 2003)
Griscelli syndrome (GS) is a rare autosomal recessive disorder that associates hypopigmentation, characterized by a silver-gray sheen of the hair and the presence of large clusters of pigment in the hair shaft, and the ...
Hyper-Igm Syndrome Type 4 With A B Lymphocyte-Intrinsic Selective Deficiency In Ig Class-Switch Recombination
(Amer Soc Clinical Investigation Inc, 2003)
Hyper-IgM syndrome (HIGM) is a heterogeneous condition characterized by impaired Ig class-switch recombination (CSR). The molecular defects that have so far been associated with this syndrome which affect the CD40 ligand ...