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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Bibliographic Details
Main Author: Propionic Acidemia (pa
Other Authors: The Pennsylvania State University CiteSeerX Archives
Format: Text
Language:English
Subjects:
Symptoms
Greenland
inuit
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
Description
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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