A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability.

O. Caluseriu; C. Di Gregorio; E. Lucci-Cordisco; M. Santarosa; J. Trojan; A. Brieger; P. Benatti; M. Pedroni; T. Colibazzi; A. Bellacosa; G. Neri; M. Ponz de Leon; A. Viel; M. Genuardi

doi:10.1136/jmg.2003.013714

A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability.

O. Caluseriu, C. Di Gregorio, E. Lucci-Cordisco, M. Santarosa, J. Trojan, A. Brieger, P. Benatti, M. Pedroni, T. Colibazzi, A. Bellacosa, G. Neri, M. Ponz de Leon, A. Viel, M. Genuardi

Catholic University of the Sacred Heart

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

23 Scopus citations

Original language	English
Pages (from-to)	e34
Journal	Journal of Medical Genetics
Volume	41
Issue number	3
DOIs	https://doi.org/10.1136/jmg.2003.013714
State	Published - Mar 2004

Keywords

Adaptor Proteins, Signal Transducing
Carrier Proteins
Cell Line
Chromosomes, Human, Pair 3/genetics
Colorectal Neoplasms, Hereditary Nonpolyposis/genetics
DNA Mutational Analysis
Female
Founder Effect
Frameshift Mutation/genetics
Humans
Immunohistochemistry
Italy
Male
Microsatellite Repeats/genetics
MutL Protein Homolog 1
Neoplasm Proteins/analysis
Nuclear Proteins
Pedigree

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1136/jmg.2003.013714

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Caluseriu, O., Di Gregorio, C., Lucci-Cordisco, E., Santarosa, M., Trojan, J., Brieger, A., Benatti, P., Pedroni, M., Colibazzi, T., Bellacosa, A., Neri, G., Ponz de Leon, M., Viel, A., & Genuardi, M. (2004). A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability. Journal of Medical Genetics, 41(3), e34. https://doi.org/10.1136/jmg.2003.013714

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title = "A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability.",

keywords = "Adaptor Proteins, Signal Transducing, Carrier Proteins, Cell Line, Chromosomes, Human, Pair 3/genetics, Colorectal Neoplasms, Hereditary Nonpolyposis/genetics, DNA Mutational Analysis, Female, Founder Effect, Frameshift Mutation/genetics, Humans, Immunohistochemistry, Italy, Male, Microsatellite Repeats/genetics, MutL Protein Homolog 1, Neoplasm Proteins/analysis, Nuclear Proteins, Pedigree",

author = "O. Caluseriu and {Di Gregorio}, C. and E. Lucci-Cordisco and M. Santarosa and J. Trojan and A. Brieger and P. Benatti and M. Pedroni and T. Colibazzi and A. Bellacosa and G. Neri and {Ponz de Leon}, M. and A. Viel and M. Genuardi",

year = "2004",

month = mar,

doi = "10.1136/jmg.2003.013714",

language = "English",

volume = "41",

pages = "e34",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

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Caluseriu, O, Di Gregorio, C, Lucci-Cordisco, E, Santarosa, M, Trojan, J, Brieger, A, Benatti, P, Pedroni, M, Colibazzi, T, Bellacosa, A, Neri, G, Ponz de Leon, M, Viel, A & Genuardi, M 2004, 'A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability.', Journal of Medical Genetics, vol. 41, no. 3, pp. e34. https://doi.org/10.1136/jmg.2003.013714

A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability. / Caluseriu, O.; Di Gregorio, C.; Lucci-Cordisco, E. et al.
In: Journal of Medical Genetics, Vol. 41, No. 3, 03.2004, p. e34.

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

TY - JOUR

T1 - A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability.

AU - Caluseriu, O.

AU - Di Gregorio, C.

AU - Lucci-Cordisco, E.

AU - Santarosa, M.

AU - Trojan, J.

AU - Brieger, A.

AU - Benatti, P.

AU - Pedroni, M.

AU - Colibazzi, T.

AU - Bellacosa, A.

AU - Neri, G.

AU - Ponz de Leon, M.

AU - Viel, A.

AU - Genuardi, M.

PY - 2004/3

Y1 - 2004/3

KW - Adaptor Proteins, Signal Transducing

KW - Carrier Proteins

KW - Cell Line

KW - Chromosomes, Human, Pair 3/genetics

KW - Colorectal Neoplasms, Hereditary Nonpolyposis/genetics

KW - DNA Mutational Analysis

KW - Female

KW - Founder Effect

KW - Frameshift Mutation/genetics

KW - Humans

KW - Immunohistochemistry

KW - Italy

KW - Male

KW - Microsatellite Repeats/genetics

KW - MutL Protein Homolog 1

KW - Neoplasm Proteins/analysis

KW - Nuclear Proteins

KW - Pedigree

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DO - 10.1136/jmg.2003.013714

M3 - Article

C2 - 14985405

SN - 0022-2593

VL - 41

SP - e34

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 3

ER -

A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability.

Keywords

UN SDGs

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