Recessive congenital methemoglobinemia in immediate generations.
نویسندگان
چکیده
We report herein on our observation of recessive congenital methemoglobinemia (type I), an autosomal recessive disorder, in immediate generations (in a mother and her daughter). Molecular analysis revealed a mechanism of inheritance not reported previously, despite the high probability of occurrence in autosomal recessive disorders. This report is also the first publication describing an extremely rare mutation (Arg50Gln) causing this disorder in the Turkish population.
منابع مشابه
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1. do Nascimento TS, Pereira RO, de Mello HL, Costa J. Methemoglobinemia: From diagnosis to treatment. Rev Bras Anestesiol 2008;58:651‐64. 2. Warang PP, Kedar PS, Shanmukaiah C, Ghosh K, Colah RB. Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India. Clin Genet 2015;87:62‐7. 3. Percy MJ, Lappin TR. Recessive congenital methaemoglobinaemia: Cytochrome b(5) red...
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ورودعنوان ژورنال:
- The Turkish journal of pediatrics
دوره 58 1 شماره
صفحات -
تاریخ انتشار 2016