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Inactivating MAX mutations have recently been reported in inherited and sporadic PGL and pheochromocytomas (PCC) [ 39, 40], and in small cell lung cancer (SCLC) specimens [ 41].
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Previously missense substitutions within or adjacent to this deletion (c.2113G > C; p.Gly705Arg and p.Asp708Asn) have been reported in recessively inherited myopathies [ 25].
An altered GABA-A receptor function has previously been reported in models of inherited murine cerebellar ataxia caused by a mutation in the CACNA1A gene.
Elevated TGF-β levels have also been reported in CARASIL, a rare recessively inherited form of SVD sharing several features with CADASIL [ 45].
A second mutation at m.1494C>T (nucleotide 1410 in E. coli) on the opposite side of helix 44 (Fig. 1) has been reported in other families with maternally inherited non-syndromic deafness (10).
Although inherited immunodeficiencies have not been reported in Yorkshire terriers, and all dogs were previously healthy, an inherited metabolic or immunologic defect cannot be ruled out because specific testing was not performed.
Both qualitatively and quantitatively inherited resistances have been reported in wheat against powdery mildew.
This is the first time in which a recessively inherited ITGB4 associated EBJ has been reported in cattle.
Congenital sensorineural deafness is usually an inherited form of deafness, and has been reported in over 80 breeds of dogs.
Eight genes likely to be inherited from a plastid from this sample have been reported in a previous paper [ 13].
CNV has been reported in the region of AR [6], [8] and SNPs can be co-inherited in linkage disequilibrium (LD) with CNV [6].
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