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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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
id ftciteseerx:oai:CiteSeerX.psu:10.1.1.432.7719
record_format openpolar
spelling ftciteseerx:oai:CiteSeerX.psu:10.1.1.432.7719 2023-05-15T16:27:20+02:00 Organic aciduria Propionic Acidemia (pa The Pennsylvania State University CiteSeerX Archives application/pdf http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.432.7719 http://www.idph.state.ia.us/genetics/common/pdf/ppa.pdf en eng http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.432.7719 http://www.idph.state.ia.us/genetics/common/pdf/ppa.pdf Metadata may be used without restrictions as long as the oai identifier remains attached to it. http://www.idph.state.ia.us/genetics/common/pdf/ppa.pdf Symptoms text ftciteseerx 2016-01-08T04:46:08Z 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 Text Greenland inuit Unknown Greenland
institution Open Polar
collection Unknown
op_collection_id ftciteseerx
language English
topic Symptoms
spellingShingle Symptoms
Propionic Acidemia (pa
Organic aciduria
topic_facet Symptoms
description 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
author2 The Pennsylvania State University CiteSeerX Archives
format Text
author Propionic Acidemia (pa
author_facet Propionic Acidemia (pa
author_sort Propionic Acidemia (pa
title Organic aciduria
title_short Organic aciduria
title_full Organic aciduria
title_fullStr Organic aciduria
title_full_unstemmed Organic aciduria
title_sort organic aciduria
url http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.432.7719
http://www.idph.state.ia.us/genetics/common/pdf/ppa.pdf
geographic Greenland
geographic_facet Greenland
genre Greenland
inuit
genre_facet Greenland
inuit
op_source http://www.idph.state.ia.us/genetics/common/pdf/ppa.pdf
op_relation http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.432.7719
http://www.idph.state.ia.us/genetics/common/pdf/ppa.pdf
op_rights Metadata may be used without restrictions as long as the oai identifier remains attached to it.
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