Integration of PCR-sequencing analysis with multiplex ligation-dependent probe amplification for diagnosis of hereditary fructose intolerance

JIMD Reports

Volumn 6, Issue , 2012, Pages 31-37

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

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c SAN GERARDO HOSPITAL   (Italy)

^d Hospital G di Cristina   (Italy)

^e CAREGGI UNIVERSITY HOSPITAL   (Italy)

Author keywords

Autosomic recessive disease; Hereditary fructose intolerance; Heterozygous large deletion; Human gene mutation database; Large deletion

Indexed keywords

EID: 84902721634     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2012_125     Document Type: Chapter

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