Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance-Reference-Cited by-同舟云学术

Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance

Published:2012 Issue: Volume: Page:31-37
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Ferri Lorenzo,Caciotti Anna,Cavicchi Catia,Rigoldi Miriam,Parini Rossella,Caserta Marina,Chibbaro Guido,Gasperini Serena,Procopio Elena,Donati Maria Alice,Guerrini Renzo,Morrone Amelia

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2012_125

Reference20 articles.

1. Alì M, Rosien U, Cox TM (1993) DNA diagnosis of fatal fructose intolerance from archival tissue. Q J Med 86(1):25–30

2. Alì M, Rellos P, Cox TM (1998) Hereditary fructose intolerance. J Med Genet 35(5):353–365

3. Caciotti A, Donati MA, Adami A, Guerrini R, Zammarchi E, Morrone A (2008) Different genotypes in a large Italian family with recurrent hereditary fructose intolerance. Eur J Gastroenterol Hepatol 20(2):118–121

4. Coffee EM, Tolan DR (2010) Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance. J Inherit Metab Dis 33(6):715–725

5. Cross NC, Tolan DR, Cox TM (1988) Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. Cell 53(6):881–885

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