Direct detection of a missense mutation causing severe hemophilia A by PCR amplification and fluorescence scanning

G. Marchetti; D. Gemmati; P. Patracchini; S. Volinia; A. Castagnoli; B. Tosi; M. Capelli; F. Bernardi

Direct detection of a missense mutation causing severe hemophilia A by PCR amplification and fluorescence scanning

G. Marchetti
, D. Gemmati
, P. Patracchini
, S. Volinia
, A. Castagnoli
, B. Tosi
, M. Capelli
, F. Bernardi

Cancer Biology & Genetics

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

1 Scopus citations

Abstract

The amplification of Factor VIII gene-specific sequences, obtained by polymerase chain reaction, was used for hemophilia A carrier detection. Exon 24 sequences were employed in the carrier status determination of a missense mutation causing severe hemophilia A in two unrelated patients. After agarose gel electrophoresis, the digested DNA was subjected to quantitative determination of fluorescence. This technique significantly improves the digest analysis.

Original language	English
Pages (from-to)	185-188
Number of pages	4
Journal	Hematologic Pathology
Volume	4
Issue number	4
State	Published - 1990

Keywords

FVIII gene lesion
PCR
carrier detection
fluorescence scanning
hemophilia A

Cite this

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title = "Direct detection of a missense mutation causing severe hemophilia A by PCR amplification and fluorescence scanning",

abstract = "The amplification of Factor VIII gene-specific sequences, obtained by polymerase chain reaction, was used for hemophilia A carrier detection. Exon 24 sequences were employed in the carrier status determination of a missense mutation causing severe hemophilia A in two unrelated patients. After agarose gel electrophoresis, the digested DNA was subjected to quantitative determination of fluorescence. This technique significantly improves the digest analysis.",

keywords = "FVIII gene lesion, PCR, carrier detection, fluorescence scanning, hemophilia A",

author = "G. Marchetti and D. Gemmati and P. Patracchini and S. Volinia and A. Castagnoli and B. Tosi and M. Capelli and F. Bernardi",

year = "1990",

language = "English",

volume = "4",

pages = "185--188",

journal = "Hematologic Pathology",

issn = "0886-0238",

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T1 - Direct detection of a missense mutation causing severe hemophilia A by PCR amplification and fluorescence scanning

AU - Marchetti, G.

AU - Gemmati, D.

AU - Patracchini, P.

AU - Volinia, S.

AU - Castagnoli, A.

AU - Tosi, B.

AU - Capelli, M.

AU - Bernardi, F.

PY - 1990

Y1 - 1990

N2 - The amplification of Factor VIII gene-specific sequences, obtained by polymerase chain reaction, was used for hemophilia A carrier detection. Exon 24 sequences were employed in the carrier status determination of a missense mutation causing severe hemophilia A in two unrelated patients. After agarose gel electrophoresis, the digested DNA was subjected to quantitative determination of fluorescence. This technique significantly improves the digest analysis.

AB - The amplification of Factor VIII gene-specific sequences, obtained by polymerase chain reaction, was used for hemophilia A carrier detection. Exon 24 sequences were employed in the carrier status determination of a missense mutation causing severe hemophilia A in two unrelated patients. After agarose gel electrophoresis, the digested DNA was subjected to quantitative determination of fluorescence. This technique significantly improves the digest analysis.

KW - FVIII gene lesion

KW - PCR

KW - carrier detection

KW - fluorescence scanning

KW - hemophilia A

UR - https://www.scopus.com/pages/publications/0025688891

M3 - Article

C2 - 2074260

AN - SCOPUS:0025688891

SN - 0886-0238

VL - 4

SP - 185

EP - 188

JO - Hematologic Pathology

JF - Hematologic Pathology

IS - 4

ER -

Direct detection of a missense mutation causing severe hemophilia A by PCR amplification and fluorescence scanning

Abstract

Keywords

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