Identification of a homozygous missense mutation (Arg to Gly) in the critical binding region of the human EC-SOD gene (SOD3) and its association with dramatically increased serum enzyme levels

Rodney J. Folz; Laura Peno-green; James D. Crapo

doi:10.1093/hmg/3.12.2251

Identification of a homozygous missense mutation (Arg to Gly) in the critical binding region of the human EC-SOD gene (SOD3) and its association with dramatically increased serum enzyme levels

Rodney J. Folz, Laura Peno-green, James D. Crapo

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

Original language	English (US)
Pages (from-to)	2251-2254
Number of pages	4
Journal	Human Molecular Genetics
Volume	3
Issue number	12
DOIs	https://doi.org/10.1093/hmg/3.12.2251
State	Published - Dec 1994

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

Access to Document

10.1093/hmg/3.12.2251

Cite this

Identification of a homozygous missense mutation (Arg to Gly) in the critical binding region of the human EC-SOD gene (SOD3) and its association with dramatically increased serum enzyme levels. / Folz, Rodney J.; Peno-green, Laura; Crapo, James D.
In: Human Molecular Genetics, Vol. 3, No. 12, 12.1994, p. 2251-2254.

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

@article{6789e539ecee4ee49a6317340621f355,

title = "Identification of a homozygous missense mutation (Arg to Gly) in the critical binding region of the human EC-SOD gene (SOD3) and its association with dramatically increased serum enzyme levels",

author = "Folz, {Rodney J.} and Laura Peno-green and Crapo, {James D.}",

note = "Funding Information: We thank Susan Fields and Dr Brian Day for assistance in performing SOD assays and Western blots, Stefan L.Marklund for EC-SOD antisera, Dr Emily K.Folz for critical reading of this manuscript, and Dr Stephen B.Liggett for suggestions with genetic screening analysis. RJ.F. was supported, in part, by a NIH Research Training Grant 5T32 HL07538, by an Allen and Hanburys Respiratory Institute Pulmonary Fellowship Award, and by a Parker B.Francis Fellowship in Pulmonary Research award. This work was funded by the National Heart Lung and Blood Institute Grants 5P01 HL31992 and R01 HL42609.",

year = "1994",

month = dec,

doi = "10.1093/hmg/3.12.2251",

language = "English (US)",

volume = "3",

pages = "2251--2254",

journal = "Human Molecular Genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

number = "12",

}

TY - JOUR

T1 - Identification of a homozygous missense mutation (Arg to Gly) in the critical binding region of the human EC-SOD gene (SOD3) and its association with dramatically increased serum enzyme levels

AU - Folz, Rodney J.

AU - Peno-green, Laura

AU - Crapo, James D.

N1 - Funding Information: We thank Susan Fields and Dr Brian Day for assistance in performing SOD assays and Western blots, Stefan L.Marklund for EC-SOD antisera, Dr Emily K.Folz for critical reading of this manuscript, and Dr Stephen B.Liggett for suggestions with genetic screening analysis. RJ.F. was supported, in part, by a NIH Research Training Grant 5T32 HL07538, by an Allen and Hanburys Respiratory Institute Pulmonary Fellowship Award, and by a Parker B.Francis Fellowship in Pulmonary Research award. This work was funded by the National Heart Lung and Blood Institute Grants 5P01 HL31992 and R01 HL42609.

PY - 1994/12

Y1 - 1994/12

UR - http://www.scopus.com/inward/record.url?scp=0028607291&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028607291&partnerID=8YFLogxK

U2 - 10.1093/hmg/3.12.2251

DO - 10.1093/hmg/3.12.2251

M3 - Comment/debate

C2 - 7881430

AN - SCOPUS:0028607291

SN - 0964-6906

VL - 3

SP - 2251

EP - 2254

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 12

ER -

Identification of a homozygous missense mutation (Arg to Gly) in the critical binding region of the human EC-SOD gene (SOD3) and its association with dramatically increased serum enzyme levels

ASJC Scopus subject areas

Access to Document

Other files and links

Cite this