Organic aciduria
In US the incidence is estimated to be 1:100,000. In Saudi Arabia the frequency is 1:2000 to 1:5000; Greenland. Inuit population incidence is about 1:1000. PCCA gene- 13q32 PCCB gene- 3q21-q22 PCCB gene has several common mutations in different populations some genotype-phenotype correlation exists...
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Language: | English |
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Online Access: | http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.432.7719 http://www.idph.state.ia.us/genetics/common/pdf/ppa.pdf |
Summary: | In US the incidence is estimated to be 1:100,000. In Saudi Arabia the frequency is 1:2000 to 1:5000; Greenland. Inuit population incidence is about 1:1000. PCCA gene- 13q32 PCCB gene- 3q21-q22 PCCB gene has several common mutations in different populations some genotype-phenotype correlation exists with null mutations and splice site mutations more severe. OMIM # *232050; #606054; *232000 |
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