A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis

Timothy M. Olson; Virginia V. Michels; Zsolt Urban; Katalin Cslszar; Angela M. Christiano; David J. Driscoll; Robert H. Feldt; Charles D. Boyd; Stephen N. Thibodeau

doi:10.1093/hmg/4.9.1677

A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis

Timothy M. Olson, Virginia V. Michels, Zsolt Urban, Katalin Cslszar, Angela M. Christiano, David J. Driscoll, Robert H. Feldt, Charles D. Boyd, Stephen N. Thibodeau

Research output: Contribution to journal › Comment/debate › peer-review

78 Scopus citations

Original language	English (US)
Pages (from-to)	1677-1679
Number of pages	3
Journal	Human molecular genetics
Volume	4
Issue number	9
DOIs	https://doi.org/10.1093/hmg/4.9.1677
State	Published - Sep 1995

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

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@article{b2896205723343a4a7a30378b68bbdf1,

title = "A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis",

author = "Olson, {Timothy M.} and Michels, {Virginia V.} and Zsolt Urban and Katalin Cslszar and Christiano, {Angela M.} and Driscoll, {David J.} and Feldt, {Robert H.} and Boyd, {Charles D.} and Thibodeau, {Stephen N.}",

note = "Funding Information: We are indebted to patients and family members for their assistance. We would like to thank Dr Joel Rosenbloom for providing unpublished elastin gene sequence and a full-length human elastin cDNA recombinant, and Dr David Friedberg for providing the cine angiogram for the proband in the reported family. This study was supported by grants from the Minnesota chapter of the American Heart Association (S.N.T) and NIH (T.M.O., C.D.B.).",

year = "1995",

month = sep,

doi = "10.1093/hmg/4.9.1677",

language = "English (US)",

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pages = "1677--1679",

journal = "Human molecular genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

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TY - JOUR

T1 - A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis

AU - Olson, Timothy M.

AU - Michels, Virginia V.

AU - Urban, Zsolt

AU - Cslszar, Katalin

AU - Christiano, Angela M.

AU - Driscoll, David J.

AU - Feldt, Robert H.

AU - Boyd, Charles D.

AU - Thibodeau, Stephen N.

N1 - Funding Information: We are indebted to patients and family members for their assistance. We would like to thank Dr Joel Rosenbloom for providing unpublished elastin gene sequence and a full-length human elastin cDNA recombinant, and Dr David Friedberg for providing the cine angiogram for the proband in the reported family. This study was supported by grants from the Minnesota chapter of the American Heart Association (S.N.T) and NIH (T.M.O., C.D.B.).

PY - 1995/9

Y1 - 1995/9

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U2 - 10.1093/hmg/4.9.1677

DO - 10.1093/hmg/4.9.1677

M3 - Comment/debate

C2 - 8541862

AN - SCOPUS:0029145430

SN - 0964-6906

VL - 4

SP - 1677

EP - 1679

JO - Human molecular genetics

JF - Human molecular genetics

IS - 9

ER -

A 30 kb deletion within the elastin gene results in familial supravalvular aortic stenosis

ASJC Scopus subject areas

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