Experience with DNA analysis in Duchenne and Becker muscular dystrophy families in NSW

G. Morgan; J. A. Donald; J. Chen; S. Serravalle; P. Colley; M. J. Denton

Experience with DNA analysis in Duchenne and Becker muscular dystrophy families in NSW

G. Morgan, J. A. Donald, J. Chen, S. Serravalle, P. Colley, M. J. Denton

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

Abstract

Results of the use of recombinant DNA techniques for the diagnosis of both forms of X-linked muscular dystrophy, Duchenne (DMD) and Becker (BMD), over an 18 month period, are reviewed. In all, 97 families with DMD were investigated and four with BMD. In 90 families the propositi were examined for deletions, in 21 families the maximum number of meioses was examined (in order to generate recombination fraction data) and in 45 families the study was undertaken to provide carrier and prenatal diagnosis.

Original language	English
Pages (from-to)	98-99
Number of pages	2
Journal	Australian Paediatric Journal
Volume	24
Issue number	SUPPL. 1
Publication status	Published - 1988
Externally published	Yes

Cite this

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abstract = "Results of the use of recombinant DNA techniques for the diagnosis of both forms of X-linked muscular dystrophy, Duchenne (DMD) and Becker (BMD), over an 18 month period, are reviewed. In all, 97 families with DMD were investigated and four with BMD. In 90 families the propositi were examined for deletions, in 21 families the maximum number of meioses was examined (in order to generate recombination fraction data) and in 45 families the study was undertaken to provide carrier and prenatal diagnosis.",

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AU - Morgan, G.

AU - Donald, J. A.

AU - Chen, J.

AU - Serravalle, S.

AU - Colley, P.

AU - Denton, M. J.

PY - 1988

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N2 - Results of the use of recombinant DNA techniques for the diagnosis of both forms of X-linked muscular dystrophy, Duchenne (DMD) and Becker (BMD), over an 18 month period, are reviewed. In all, 97 families with DMD were investigated and four with BMD. In 90 families the propositi were examined for deletions, in 21 families the maximum number of meioses was examined (in order to generate recombination fraction data) and in 45 families the study was undertaken to provide carrier and prenatal diagnosis.

AB - Results of the use of recombinant DNA techniques for the diagnosis of both forms of X-linked muscular dystrophy, Duchenne (DMD) and Becker (BMD), over an 18 month period, are reviewed. In all, 97 families with DMD were investigated and four with BMD. In 90 families the propositi were examined for deletions, in 21 families the maximum number of meioses was examined (in order to generate recombination fraction data) and in 45 families the study was undertaken to provide carrier and prenatal diagnosis.

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M3 - Article

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AN - SCOPUS:0023760302

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JO - Australian Paediatric Journal

JF - Australian Paediatric Journal

SN - 0004-993X

IS - SUPPL. 1

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Experience with DNA analysis in Duchenne and Becker muscular dystrophy families in NSW

Abstract

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