Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes

Aaron Hamvas; Lawrence M. Nogee; Daniel J. Wegner; Kelcey DePass; John Christodoulou; Bruce Bennetts; Leon R. McQuade; Peter H. Gray; Robin R. Deterding; Travis R. Carroll; Anja Kammesheidt; Laura M. Kasch; Shashikant Kulkarni; F. Sessions Cole

doi:10.1016/j.jpeds.2009.06.006

Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes

Aaron Hamvas, Lawrence M. Nogee, Daniel J. Wegner, Kelcey DePass, John Christodoulou, Bruce Bennetts, Leon R. McQuade, Peter H. Gray, Robin R. Deterding, Travis R. Carroll, Anja Kammesheidt, Laura M. Kasch, Shashikant Kulkarni, F. Sessions Cole

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

35 Citations (Scopus)

Original language	English
Pages (from-to)	854-859
Number of pages	6
Journal	Journal of Pediatrics
Volume	155
Issue number	6
DOIs	https://doi.org/10.1016/j.jpeds.2009.06.006
Publication status	Published - 2009
Externally published	Yes

Keywords

ABCA3, ATP binding cassette subfamily A, member 3
ABCA3, ABCA3 gene
PCR, Polymerase chain reaction
SP-B, Surfactant protein-B
SFTPB, SP-B gene
SP-C, Surfactant protein-C
SFTPC, SP-C gene
UPD, Uniparental disomy

Access to Document

10.1016/j.jpeds.2009.06.006

Cite this

Hamvas, A., Nogee, L. M., Wegner, D. J., DePass, K., Christodoulou, J., Bennetts, B., McQuade, L. R., Gray, P. H., Deterding, R. R., Carroll, T. R., Kammesheidt, A., Kasch, L. M., Kulkarni, S., & Cole, F. S. (2009). Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes. Journal of Pediatrics, 155(6), 854-859. https://doi.org/10.1016/j.jpeds.2009.06.006

@article{ec6d6d13476e43ea82f7faf2ea82a3f0,

title = "Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes",

keywords = "ABCA3, ATP binding cassette subfamily A, member 3, ABCA3, ABCA3 gene, PCR, Polymerase chain reaction, SP-B, Surfactant protein-B, SFTPB, SP-B gene, SP-C, Surfactant protein-C, SFTPC, SP-C gene, UPD, Uniparental disomy",

author = "Aaron Hamvas and Nogee, {Lawrence M.} and Wegner, {Daniel J.} and Kelcey DePass and John Christodoulou and Bruce Bennetts and McQuade, {Leon R.} and Gray, {Peter H.} and Deterding, {Robin R.} and Carroll, {Travis R.} and Anja Kammesheidt and Kasch, {Laura M.} and Shashikant Kulkarni and Cole, {F. Sessions}",

year = "2009",

doi = "10.1016/j.jpeds.2009.06.006",

language = "English",

volume = "155",

pages = "854--859",

journal = "Journal of Pediatrics",

issn = "0022-3476",

publisher = "Elsevier",

number = "6",

}

Hamvas, A, Nogee, LM, Wegner, DJ, DePass, K, Christodoulou, J, Bennetts, B, McQuade, LR, Gray, PH, Deterding, RR, Carroll, TR, Kammesheidt, A, Kasch, LM, Kulkarni, S & Cole, FS 2009, 'Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes', Journal of Pediatrics, vol. 155, no. 6, pp. 854-859. https://doi.org/10.1016/j.jpeds.2009.06.006

TY - JOUR

T1 - Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes

AU - Hamvas, Aaron

AU - Nogee, Lawrence M.

AU - Wegner, Daniel J.

AU - DePass, Kelcey

AU - Christodoulou, John

AU - Bennetts, Bruce

AU - McQuade, Leon R.

AU - Gray, Peter H.

AU - Deterding, Robin R.

AU - Carroll, Travis R.

AU - Kammesheidt, Anja

AU - Kasch, Laura M.

AU - Kulkarni, Shashikant

AU - Cole, F. Sessions

PY - 2009

Y1 - 2009

KW - ABCA3, ATP binding cassette subfamily A, member 3

KW - ABCA3, ABCA3 gene

KW - PCR, Polymerase chain reaction

KW - SP-B, Surfactant protein-B

KW - SFTPB, SP-B gene

KW - SP-C, Surfactant protein-C

KW - SFTPC, SP-C gene

KW - UPD, Uniparental disomy

U2 - 10.1016/j.jpeds.2009.06.006

DO - 10.1016/j.jpeds.2009.06.006

M3 - Article

C2 - 19647838

SN - 0022-3476

VL - 155

SP - 854

EP - 859

JO - Journal of Pediatrics

JF - Journal of Pediatrics

IS - 6

ER -