Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis
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Cintia E. Citterio | H. Targovnik | M. Miras | G. Sobrero | C. Rivolta | M. C. Olcese | F. Belforte | G. Testa | M. Olcese