Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene

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Standard

Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene. / Xu, H; Wu, X R; Wewer, U M; Engvall, E.

I: Nature Genetics, Bind 8, Nr. 3, 01.11.1994, s. 297-302.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Xu, H, Wu, XR, Wewer, UM & Engvall, E 1994, 'Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene', Nature Genetics, bind 8, nr. 3, s. 297-302. https://doi.org/10.1038/ng1194-297

APA

Xu, H., Wu, X. R., Wewer, U. M., & Engvall, E. (1994). Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene. Nature Genetics, 8(3), 297-302. https://doi.org/10.1038/ng1194-297

Vancouver

Xu H, Wu XR, Wewer UM, Engvall E. Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene. Nature Genetics. 1994 nov. 1;8(3):297-302. https://doi.org/10.1038/ng1194-297

Author

Xu, H ; Wu, X R ; Wewer, U M ; Engvall, E. / Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene. I: Nature Genetics. 1994 ; Bind 8, Nr. 3. s. 297-302.

Bibtex

@article{ca578e819e7741709735e6bb34ffe2c8,
title = "Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene",
abstract = "The classic murine muscular dystrophy strain, dy, was first described almost 40 years ago. We have identified the molecular basis of an allele of dy, called dy2J, by detecting a mutation in the laminin alpha 2 chain gene--the first identified mutation in laminin-2. The G to A mutation in a splice site consensus sequence causes abnormal splicing and expression of multiple mRNAs. One mRNA is translated into an alpha 2 polypeptide with a deletion in domain VI. The truncated protein apparently lacks important qualities of the wild type protein and is unable to provide sufficient muscle stability.",
keywords = "Amino Acid Sequence, Animals, Base Sequence, Basement Membrane, Cell Adhesion, DNA, Complementary, Female, Glycosylation, Laminin, Male, Mice, Mice, Inbred C57BL, Mice, Mutant Strains, Molecular Sequence Data, Muscle Proteins, Muscles, Muscular Dystrophy, Animal, Nerve Tissue Proteins, Point Mutation, Protein Processing, Post-Translational, RNA Splicing, RNA, Messenger, Sequence Deletion",
author = "H Xu and Wu, {X R} and Wewer, {U M} and E Engvall",
year = "1994",
month = nov,
day = "1",
doi = "10.1038/ng1194-297",
language = "English",
volume = "8",
pages = "297--302",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "nature publishing group",
number = "3",

}

RIS

TY - JOUR

T1 - Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene

AU - Xu, H

AU - Wu, X R

AU - Wewer, U M

AU - Engvall, E

PY - 1994/11/1

Y1 - 1994/11/1

N2 - The classic murine muscular dystrophy strain, dy, was first described almost 40 years ago. We have identified the molecular basis of an allele of dy, called dy2J, by detecting a mutation in the laminin alpha 2 chain gene--the first identified mutation in laminin-2. The G to A mutation in a splice site consensus sequence causes abnormal splicing and expression of multiple mRNAs. One mRNA is translated into an alpha 2 polypeptide with a deletion in domain VI. The truncated protein apparently lacks important qualities of the wild type protein and is unable to provide sufficient muscle stability.

AB - The classic murine muscular dystrophy strain, dy, was first described almost 40 years ago. We have identified the molecular basis of an allele of dy, called dy2J, by detecting a mutation in the laminin alpha 2 chain gene--the first identified mutation in laminin-2. The G to A mutation in a splice site consensus sequence causes abnormal splicing and expression of multiple mRNAs. One mRNA is translated into an alpha 2 polypeptide with a deletion in domain VI. The truncated protein apparently lacks important qualities of the wild type protein and is unable to provide sufficient muscle stability.

KW - Amino Acid Sequence

KW - Animals

KW - Base Sequence

KW - Basement Membrane

KW - Cell Adhesion

KW - DNA, Complementary

KW - Female

KW - Glycosylation

KW - Laminin

KW - Male

KW - Mice

KW - Mice, Inbred C57BL

KW - Mice, Mutant Strains

KW - Molecular Sequence Data

KW - Muscle Proteins

KW - Muscles

KW - Muscular Dystrophy, Animal

KW - Nerve Tissue Proteins

KW - Point Mutation

KW - Protein Processing, Post-Translational

KW - RNA Splicing

KW - RNA, Messenger

KW - Sequence Deletion

U2 - 10.1038/ng1194-297

DO - 10.1038/ng1194-297

M3 - Journal article

C2 - 7874173

VL - 8

SP - 297

EP - 302

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 3

ER -

ID: 34326139