Different approaches to molecular scanning of point mutations in genetic diseases

Maurizio Ferrari; Paola Carrera; Laura Cremonesi

Different approaches to molecular scanning of point mutations in genetic diseases

Maurizio Ferrari, Paola Carrera, Laura Cremonesi

IRCCS Ospedale San Raffaele

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

Abstract

Several advanced techniques to detect mutations have been developed during the last years. Scanning procedures can be classified as "physical" and "cleavage" methodologies. Physical methods include Denaturing Gradient Gel Electrophoresis, Single-Strand Conformation Polymorphism and Heteroduplex Analysis while cleavage methods include RNAse A Cleavage, Chemical Mismatch Cleavage and Enzyme Mismatch Cleavage. A related technique, Protein Truncation Test, has been recently introduced.

Original language	English
Pages (from-to)	1913-1918
Number of pages	6
Journal	Pure and Applied Chemistry
Volume	68
Issue number	10
Publication status	Published - Oct 1996

ASJC Scopus subject areas

Chemistry(all)

Access to Document

Fingerprint Dive into the research topics of 'Different approaches to molecular scanning of point mutations in genetic diseases'. Together they form a unique fingerprint.

Cite this

@article{d0d93e7bdf604192b92720b17e0eeece,

title = "Different approaches to molecular scanning of point mutations in genetic diseases",

abstract = "Several advanced techniques to detect mutations have been developed during the last years. Scanning procedures can be classified as {"}physical{"} and {"}cleavage{"} methodologies. Physical methods include Denaturing Gradient Gel Electrophoresis, Single-Strand Conformation Polymorphism and Heteroduplex Analysis while cleavage methods include RNAse A Cleavage, Chemical Mismatch Cleavage and Enzyme Mismatch Cleavage. A related technique, Protein Truncation Test, has been recently introduced.",

author = "Maurizio Ferrari and Paola Carrera and Laura Cremonesi",

year = "1996",

month = oct,

language = "English",

volume = "68",

pages = "1913--1918",

journal = "Pure and Applied Chemistry",

issn = "0033-4545",

publisher = "IUPAC Secretariat",

number = "10",

}

TY - JOUR

T1 - Different approaches to molecular scanning of point mutations in genetic diseases

AU - Ferrari, Maurizio

AU - Carrera, Paola

AU - Cremonesi, Laura

PY - 1996/10

Y1 - 1996/10

N2 - Several advanced techniques to detect mutations have been developed during the last years. Scanning procedures can be classified as "physical" and "cleavage" methodologies. Physical methods include Denaturing Gradient Gel Electrophoresis, Single-Strand Conformation Polymorphism and Heteroduplex Analysis while cleavage methods include RNAse A Cleavage, Chemical Mismatch Cleavage and Enzyme Mismatch Cleavage. A related technique, Protein Truncation Test, has been recently introduced.

AB - Several advanced techniques to detect mutations have been developed during the last years. Scanning procedures can be classified as "physical" and "cleavage" methodologies. Physical methods include Denaturing Gradient Gel Electrophoresis, Single-Strand Conformation Polymorphism and Heteroduplex Analysis while cleavage methods include RNAse A Cleavage, Chemical Mismatch Cleavage and Enzyme Mismatch Cleavage. A related technique, Protein Truncation Test, has been recently introduced.

UR - http://www.scopus.com/inward/record.url?scp=0039452718&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0039452718&partnerID=8YFLogxK

M3 - Article

AN - SCOPUS:0039452718

VL - 68

SP - 1913

EP - 1918

JO - Pure and Applied Chemistry

JF - Pure and Applied Chemistry

SN - 0033-4545

IS - 10

ER -