What question did this study set out to answer?

Investigate genetic alterations within the 3' untranslated region of the factor IX gene responsible for hemophilia B in affected families.

January 1, 1993Human Molecular Genetics

A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B

View Full Paper

Ask AI

Bookmark

Investigate genetic alterations within the 3' untranslated region of the factor IX gene responsible for hemophilia B in affected families.
Performed genetic screening and sequence analysis of the factor IX gene across four families diagnosed with hemophilia B.
Evaluated the noncoding regulatory sequence, specifically targeting the 3' untranslated region of the factor IX transcript.
Identified a recurrent sequence mutation localized to the 3' untranslated region of the factor IX gene across four kindreds.
Demonstrated that noncoding regulatory variants outside the protein-coding sequence can disrupt factor IX expression and produce the hemophilia B bleeding phenotype.

Implication

Genetic analysis uncovers a factor IX 3' untranslated region mutation in four families, highlighting noncoding defects in hemophilia B.

Abstract

Erica Vielhaber, David P. Jacobson, Rhett P. Ketterling, Jing-Zhong Liu, Steve S. Sommer; A mutation in the 3' untranslated region of the factor IX gene in four

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Vielhaber et al. (1993) studied this question.

synapsesocial.com/papers/6a831619103ff40a2293c470 https://doi.org/10.1093/hmg/2.8.1309

View Full Paper

Ask AI

Bookmark

Implication

Genetic analysis uncovers a factor IX 3' untranslated region mutation in four families, highlighting noncoding defects in hemophilia B.

Abstract

Erica Vielhaber, David P. Jacobson, Rhett P. Ketterling, Jing-Zhong Liu, Steve S. Sommer; A mutation in the 3' untranslated region of the factor IX gene in four

A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B

Key Points

Implication

Abstract

Discussion

Cite This Study

A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B

Key Points

Implication

Abstract

Discussion

Cite This Study

Keep reading

Keep reading