The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis

Andrew Wyn Thomas; Ruth Morgan; Mary Sweeney; Alan Rees; John Alcolado

doi:10.1007/BF00206954

The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis

Andrew Wyn Thomas^*
, Ruth Morgan
, Mary Sweeney
, Alan Rees
, John Alcolado

^*Awdur cyfatebol y gwaith hwn

Allbwn ymchwil: Cyfraniad at gyfnodolyn › Erthygl › adolygiad gan gymheiriaid

23 Dyfyniadau (Scopus)

Crynodeb

A number of mitochondrial (mt) point mutations have been associated with inherited disorders. These pathogenic mutations are usually heteroplasmic. Here we describe the identification of three heteroplasmic mtDNA point mutations using the techniques of single stranded conformation polymorphism (SSCP) and heteroduplex analysis.

Iaith wreiddiol	Saesneg
Tudalennau (o-i)	621-623
Nifer y tudalennau	3
Cyfnodolyn	Human Genetics
Cyfrol	94
Rhif cyhoeddi	6
Dynodwyr Gwrthrych Digidol (DOIs)	https://doi.org/10.1007/BF00206954
Statws	Cyhoeddwyd - Rhag 1994
Cyhoeddwyd yn allanol	Ie

Mynediad at Ddogfen

10.1007/BF00206954

Ffeiliau eraill a chysylltiadau

Dolen i’r cyhoeddiad yn Scopus

Dyfynnu hyn

@article{0e6de15786e14d418c168cda8d8bdd59,

title = "The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis",

abstract = "A number of mitochondrial (mt) point mutations have been associated with inherited disorders. These pathogenic mutations are usually heteroplasmic. Here we describe the identification of three heteroplasmic mtDNA point mutations using the techniques of single stranded conformation polymorphism (SSCP) and heteroduplex analysis.",

author = "Thomas, \{Andrew Wyn\} and Ruth Morgan and Mary Sweeney and Alan Rees and John Alcolado",

year = "1994",

month = dec,

doi = "10.1007/BF00206954",

language = "English",

volume = "94",

pages = "621--623",

journal = "Human Genetics",

issn = "0340-6717",

number = "6",

}

TY - JOUR

T1 - The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis

AU - Thomas, Andrew Wyn

AU - Morgan, Ruth

AU - Sweeney, Mary

AU - Rees, Alan

AU - Alcolado, John

PY - 1994/12

Y1 - 1994/12

N2 - A number of mitochondrial (mt) point mutations have been associated with inherited disorders. These pathogenic mutations are usually heteroplasmic. Here we describe the identification of three heteroplasmic mtDNA point mutations using the techniques of single stranded conformation polymorphism (SSCP) and heteroduplex analysis.

AB - A number of mitochondrial (mt) point mutations have been associated with inherited disorders. These pathogenic mutations are usually heteroplasmic. Here we describe the identification of three heteroplasmic mtDNA point mutations using the techniques of single stranded conformation polymorphism (SSCP) and heteroduplex analysis.

UR - https://www.scopus.com/pages/publications/0028018954

U2 - 10.1007/BF00206954

DO - 10.1007/BF00206954

M3 - Article

C2 - 7989037

AN - SCOPUS:0028018954

SN - 0340-6717

VL - 94

SP - 621

EP - 623

JO - Human Genetics

JF - Human Genetics

IS - 6

ER -