De novo beta-globin gene mutation [beta 63(E7)His-->Tyr] giving rise to Hb M disease in a Newfoundlander

Hemoglobin. 1994 Nov;18(6):441-3. doi: 10.3109/03630269409045777.

Authors

J S Waye¹, M Patterson, B Eng

Affiliation

¹ Provincial Hemoglobinopathy DNA Diagnostic Laboratory, McMaster University Medical Centre Hamilton, Ontario, Canada.

PMID: 7713749
DOI: 10.3109/03630269409045777

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Base Sequence
Cyanosis / blood
Cyanosis / genetics
DNA Mutational Analysis
Deoxyribonucleases, Type II Site-Specific
Female
Globins / genetics*
Hemoglobinopathies / blood
Hemoglobinopathies / diagnosis
Hemoglobinopathies / genetics*
Hemoglobins, Abnormal / analysis
Hemoglobins, Abnormal / genetics*
Humans
Male
Molecular Sequence Data
Newfoundland and Labrador
Pedigree
Point Mutation*
Polymerase Chain Reaction

Substances

Hemoglobins, Abnormal
hemoglobin Saskatoon
Globins
endodeoxyribonuclease NlaIII
Deoxyribonucleases, Type II Site-Specific