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3 e lineage across numerous linguistically and autosomally divergent populations have previously been u
4 s in the etiology of a number of undiagnosed autosomally dominant cases of amelogenesis imperfecta.
5 aryngeal muscular dystrophy is a late-onset, autosomally dominant disorder characterized by progressi
11 tive, specific for an HLA class I-restricted autosomally encoded minor H Ag, but was only weakly cyto
12 ar titration between an X-encoded RNA and an autosomally encoded protein dictates Xist induction.
17 ) or branched-chain alpha-ketoaciduria is an autosomally inherited disorder in the catabolism of bran
19 of primary familial brain calcification, an autosomally inherited neuropsychiatric disorder, the pre
20 von Willebrand disease (vWD) is a common, autosomally inherited, bleeding disorder caused by quant
21 h a cosmid-based transgene that serves as an autosomally linked duplication of a small region of the
22 her confirmed by combination of X-linked and autosomally located miniwhite reporter genes in metafema
23 t in the male germline, so expression of the autosomally located spe-5 gene ensures that a V-ATPase B
24 small number of individuals with persistent, autosomally recessive inherited AnWj-negative phenotype
26 n our search for the disease gene underlying autosomally recessively inherited infantile onset spinoc