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TIP Revista Especializada en Ciencias Químico-Biológicas

2020, Number 1

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TIP Rev Esp Cienc Quim Biol 2020; 23 (1)

Analysis of the c.187 C› T mutation in ATP6V0A2 by PCR-ARMS

González-Domínguez CA, López-Valdez J, Martínez-Duncker RI, Salinas-Marín R

Language: Spanish
References: 23
Page: 1-9
PDF size: 759.11 Kb.


ABSTRACT

Congenital disorders of glycosylation (CDG) are rare hereditary metabolic diseases (EPOF) that occur as a result of mutations in the genes coding for proteins involved direct or indirectly in this process. Autosomal Recessive Cutis Laxa disease type II-A (ARCL2A) is a type of CDG (ATP6V0A2-CDG) caused by mutations in ATP6V0A2, which codes for the a2 subunit of the v0 domain of a vacuolar ATPase that has the function of transporting H+ through cell membranes, regulating pH in cells compartments, including Golgi acidification. In 2014, our research group reported the first two cases of ATP6V0A2-CDG in Mexico. In this work, a methodology was established to identify carriers of the c.187 C› T mutation in ATP6V0A2 by PCR-ARMS.


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