Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

Guida Landouré; Jeremy M. Sullivan; Janel O. Johnson; Clare H. Munns; Yijun Shi; Oumarou Diallo; J. Raphael Gibbs; Rachelle Gaudet; Christy L. Ludlow; Kenneth H. Fischbeck; Bryan J. Traynor; Barrington G. Burnett; Charlotte J. Sumner

doi:10.1212/WNL.0b013e31825f04b2

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

Guida Landouré, Jeremy M. Sullivan, Janel O. Johnson, Clare H. Munns, Yijun Shi, Oumarou Diallo, J. Raphael Gibbs, Rachelle Gaudet, Christy L. Ludlow, Kenneth H. Fischbeck, Bryan J. Traynor, Barrington G. Burnett, Charlotte J. Sumner

School of Medicine

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

26 Scopus citations

Original language	English (US)
Pages (from-to)	192-194
Number of pages	3
Journal	Neurology
Volume	79
Issue number	2
DOIs	https://doi.org/10.1212/WNL.0b013e31825f04b2
State	Published - Jul 10 2012

ASJC Scopus subject areas

Clinical Neurology

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10.1212/WNL.0b013e31825f04b2

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@article{d03b48a09ccf4aedaf9d04716cff4d78,

title = "Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family",

author = "Guida Landour{\'e} and Sullivan, {Jeremy M.} and Johnson, {Janel O.} and Munns, {Clare H.} and Yijun Shi and Oumarou Diallo and Gibbs, {J. Raphael} and Rachelle Gaudet and Ludlow, {Christy L.} and Fischbeck, {Kenneth H.} and Traynor, {Bryan J.} and Burnett, {Barrington G.} and Sumner, {Charlotte J.}",

note = "Funding Information: Study funding: Supported by intramural funds from the National Institute of Neurological Disorders and Stroke at NIH, NIH grant R01NS062869 to C.J.S., the intramural research program of the NIA ( Z01-AG000949-02 ), and NIH grant R01GM081340 to R.G. ",

year = "2012",

month = jul,

day = "10",

doi = "10.1212/WNL.0b013e31825f04b2",

language = "English (US)",

volume = "79",

pages = "192--194",

journal = "Neurology",

issn = "0028-3878",

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number = "2",

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TY - JOUR

T1 - Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

AU - Landouré, Guida

AU - Sullivan, Jeremy M.

AU - Johnson, Janel O.

AU - Munns, Clare H.

AU - Shi, Yijun

AU - Diallo, Oumarou

AU - Gibbs, J. Raphael

AU - Gaudet, Rachelle

AU - Ludlow, Christy L.

AU - Fischbeck, Kenneth H.

AU - Traynor, Bryan J.

AU - Burnett, Barrington G.

AU - Sumner, Charlotte J.

N1 - Funding Information: Study funding: Supported by intramural funds from the National Institute of Neurological Disorders and Stroke at NIH, NIH grant R01NS062869 to C.J.S., the intramural research program of the NIA ( Z01-AG000949-02 ), and NIH grant R01GM081340 to R.G.

PY - 2012/7/10

Y1 - 2012/7/10

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U2 - 10.1212/WNL.0b013e31825f04b2

DO - 10.1212/WNL.0b013e31825f04b2

M3 - Article

C2 - 22675077

AN - SCOPUS:84866250052

SN - 0028-3878

VL - 79

SP - 192

EP - 194

JO - Neurology

JF - Neurology

IS - 2

ER -

Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

ASJC Scopus subject areas

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