Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease

MG Pittis; M Donnarumma; A Montalvo; S Dominissini; MJ Kroos; C Rosano; M Stroppiano; M Bianco; MA Donati; G Parenti; A D' Amico; G Ciana; M di Rocco; Arnold Reuser; B Bembi; M Filocamo

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease

MG Pittis
, M Donnarumma
, A Montalvo
, S Dominissini
, MJ Kroos
, C Rosano
, M Stroppiano
, M Bianco
, MA Donati
, G Parenti
, A D' Amico
, G Ciana
, M di Rocco
, Arnold Reuser
, B Bembi
, M Filocamo

Research output: Contribution to journal › Article › Academic › peer-review

46 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	E27-E36
Journal	Human Mutation
Volume	29
Publication status	Published - 2008

Research programs

EMC MGC-02-96-01

Cite this

@article{b6572ef3ad5b4cd880ff6922e0025c0f,

title = "Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease",

author = "MG Pittis and M Donnarumma and A Montalvo and S Dominissini and MJ Kroos and C Rosano and M Stroppiano and M Bianco and MA Donati and G Parenti and \{D' Amico\}, A and G Ciana and \{di Rocco\}, M and Arnold Reuser and B Bembi and M Filocamo",

year = "2008",

language = "Undefined/Unknown",

volume = "29",

pages = "E27--E36",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley \& Sons Inc.",

}

TY - JOUR

T1 - Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease

AU - Pittis, MG

AU - Donnarumma, M

AU - Montalvo, A

AU - Dominissini, S

AU - Kroos, MJ

AU - Rosano, C

AU - Stroppiano, M

AU - Bianco, M

AU - Donati, MA

AU - Parenti, G

AU - D' Amico, A

AU - Ciana, G

AU - di Rocco, M

AU - Reuser, Arnold

AU - Bembi, B

AU - Filocamo, M

PY - 2008

Y1 - 2008

M3 - Article

SN - 1059-7794

VL - 29

SP - E27-E36

JO - Human Mutation

JF - Human Mutation

ER -