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Analysis of the myoglobin gene in heart disease
Author(s) -
Fernandez Eduardo,
Duke Angie,
Sevrioukova Irina,
Shohet Ralph V.
Publication year - 1997
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1997)9:5<426::aid-humu8>3.0.co;2-1
Subject(s) - myoglobin , biology , mutation , disease , genetics , gene , genotype , population , medicine , bioinformatics , biochemistry , environmental health
Analysis of the myoglobin gene from a large number of patients with cardiac disease disclosed a single substantive mutation. However, no evidence of biochemical or physiological dysfunction due to this mutation was detected. We conclude that, within the limits of presently available techniques, myoglobin mutations are unlikely to contribute substantially to the genotypic background of cardiac disease in the general population. Hum Mutat 9:426–430, 1997. © 1997 Wiley‐Liss, Inc.