Candidate gene analysis of the surfactant protein d gene in pediatric diffuse lung disease

W. Adam Gower; Lawrence M. Nogee

doi:10.1016/j.jpeds.2013.06.063

Candidate gene analysis of the surfactant protein d gene in pediatric diffuse lung disease

W. Adam Gower, Lawrence M. Nogee

School of Medicine

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

5 Scopus citations

Abstract

Mutations in surfactant-associated genes cause childhood diffuse lung disease. Mice lacking surfactant protein D develop lung disease with age. However, we identified no novel surfactant protein D gene (SFTPD) coding or splice region variants in 73 unrelated children with diffuse lung disease from a cohort enriched for genetic surfactant dysfunction.

Original language	English (US)
Pages (from-to)	1778-1780
Number of pages	3
Journal	Journal of Pediatrics
Volume	163
Issue number	6
DOIs	https://doi.org/10.1016/j.jpeds.2013.06.063
State	Published - Dec 2013

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Access to Document

10.1016/j.jpeds.2013.06.063

Cite this

@article{73c9ee0f86184745ba2a3de1efe4e63b,

title = "Candidate gene analysis of the surfactant protein d gene in pediatric diffuse lung disease",

abstract = "Mutations in surfactant-associated genes cause childhood diffuse lung disease. Mice lacking surfactant protein D develop lung disease with age. However, we identified no novel surfactant protein D gene (SFTPD) coding or splice region variants in 73 unrelated children with diffuse lung disease from a cohort enriched for genetic surfactant dysfunction.",

author = "Gower, {W. Adam} and Nogee, {Lawrence M.}",

note = "Funding Information: Supported by the National Institutes of Health ( R01 HL54703 [to L.N.] and NIH T32 HL072748 ) [to W.G., P.Z.; principal investigators] and The Hartwell Foundation (to W.G.). Both authors receive royalties for writing the review of Genetic Disorders of Surfactant Dysfunction for UpToDate ( www.uptodate.com ). The authors declare no conflicts of interest. ",

year = "2013",

month = dec,

doi = "10.1016/j.jpeds.2013.06.063",

language = "English (US)",

volume = "163",

pages = "1778--1780",

journal = "Journal of Pediatrics",

issn = "0022-3476",

publisher = "Mosby Inc.",

number = "6",

}

TY - JOUR

T1 - Candidate gene analysis of the surfactant protein d gene in pediatric diffuse lung disease

AU - Gower, W. Adam

AU - Nogee, Lawrence M.

N1 - Funding Information: Supported by the National Institutes of Health ( R01 HL54703 [to L.N.] and NIH T32 HL072748 ) [to W.G., P.Z.; principal investigators] and The Hartwell Foundation (to W.G.). Both authors receive royalties for writing the review of Genetic Disorders of Surfactant Dysfunction for UpToDate ( www.uptodate.com ). The authors declare no conflicts of interest.

PY - 2013/12

Y1 - 2013/12

N2 - Mutations in surfactant-associated genes cause childhood diffuse lung disease. Mice lacking surfactant protein D develop lung disease with age. However, we identified no novel surfactant protein D gene (SFTPD) coding or splice region variants in 73 unrelated children with diffuse lung disease from a cohort enriched for genetic surfactant dysfunction.

AB - Mutations in surfactant-associated genes cause childhood diffuse lung disease. Mice lacking surfactant protein D develop lung disease with age. However, we identified no novel surfactant protein D gene (SFTPD) coding or splice region variants in 73 unrelated children with diffuse lung disease from a cohort enriched for genetic surfactant dysfunction.

UR - http://www.scopus.com/inward/record.url?scp=84888348576&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84888348576&partnerID=8YFLogxK

U2 - 10.1016/j.jpeds.2013.06.063

DO - 10.1016/j.jpeds.2013.06.063

M3 - Article

C2 - 23932215

AN - SCOPUS:84888348576

SN - 0022-3476

VL - 163

SP - 1778

EP - 1780

JO - Journal of Pediatrics

JF - Journal of Pediatrics

IS - 6

ER -

Candidate gene analysis of the surfactant protein d gene in pediatric diffuse lung disease

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this