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Article

Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations.

Human mutation - 1 Jan 1999

Ketterling R P, Drost J B, Scaringe W A, Liao D Z, Liu J Z, Kasper C K, Sommer S S

Abstract excerpt

Small consensus sequences have been defined for RNA splicing, but questions about splicing in humans remain unanswered. Analysis of germline mutations in the factor IX gene offers a highly advantageous system for studying the mutational process in humans. In a sample of 860 families with hemophilia B, 9% of independent mutations are likely to disrupt splicing as their primary mode of action. This includes 26...

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PMID: 10090477
DOI: 10.1002/(SICI)1098-1004(1999)13:3<221::AID-HUMU6>3.0.CO;2-U

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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