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Multinodular goitre complicated by abscess due to E. coli

✍ Scribed by Glenn Boyce; Prassannah Satasivam; Francis Miller

Book ID
118712421
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
183 KB
Volume
79
Category
Article
ISSN
1445-1433

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Screening for mutations by expressing pa
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## Communicated by Davd Valk Deficiency of cystathionine P-synthase (CBS) causes the most common form of inherited homocystinuria. We developed a simple CBS expression system in E. coli to screen for pathogenic mutations in affected individuals. Portions of patient cDNAs were amplified by PCR and