Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient

A. V. Winnard; Y. Jia-hsu; R. A. Gibbs; J. R. Mendell; A. H.M. Burghes

doi:10.1093/hmg/1.8.645

Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient

A. V. Winnard
, Y. Jia-hsu
, R. A. Gibbs
, J. R. Mendell
, A. H.M. Burghes

Research output: Contribution to journal › Comment/debate

Original language	English
Pages (from-to)	645-646
Number of pages	2
Journal	Human Molecular Genetics
Volume	1
Issue number	8
DOIs	https://doi.org/10.1093/hmg/1.8.645
State	Published - Oct 1992

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10.1093/hmg/1.8.645

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@article{dfaecbbd6e114c99a276d30a0dd26b2c,

title = "Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient",

author = "Winnard, \{A. V.\} and Y. Jia-hsu and Gibbs, \{R. A.\} and Mendell, \{J. R.\} and Burghes, \{A. H.M.\}",

note = "Funding Information: We wish to thank Thomas Prior for supplying a panel of non-deletion DMD patients for this study. This work was supported by the Muscular Dystrophy Association and by National Institutes of Health, grant R29-AR40015-01. A.V.W. is a recipient of a Proctor and Gamble Graduate Fellowship award.",

year = "1992",

month = oct,

doi = "10.1093/hmg/1.8.645",

language = "English",

volume = "1",

pages = "645--646",

journal = "Human Molecular Genetics",

issn = "0964-6906",

number = "8",

}

TY - JOUR

T1 - Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient

AU - Winnard, A. V.

AU - Jia-hsu, Y.

AU - Gibbs, R. A.

AU - Mendell, J. R.

AU - Burghes, A. H.M.

N1 - Funding Information: We wish to thank Thomas Prior for supplying a panel of non-deletion DMD patients for this study. This work was supported by the Muscular Dystrophy Association and by National Institutes of Health, grant R29-AR40015-01. A.V.W. is a recipient of a Proctor and Gamble Graduate Fellowship award.

PY - 1992/10

Y1 - 1992/10

UR - https://www.scopus.com/pages/publications/0026948981

U2 - 10.1093/hmg/1.8.645

DO - 10.1093/hmg/1.8.645

M3 - Comment/debate

C2 - 1301174

AN - SCOPUS:0026948981

SN - 0964-6906

VL - 1

SP - 645

EP - 646

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 8

ER -

Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient

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