Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Assessing the underlying pattern of human germline mutations: lessons from the factor IX gene.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Jul 1992

Sommer S S

Abstract excerpt

Germline mutations cause or predispose to most disease. Hemophilia B is a useful model for studying the underlying pattern of recent germline mutations in humans because the observed pattern of mutation in factor IX more closely reflects the underlying pattern of mutation than the observed pattern for many other genes. In addition, it is possible to identify and correct for biases inherent in ascertaining only...

Topics

Amino Acid Sequence
Bias
Canada
Ethnicity
Factor IX
Germ Cells
Hemophilia B
Humans
Korea
Molecular Sequence Data
Mutation
Sex Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

United States

White People

Source

Identifiers

PMID: 1634040
DOI: 10.1096/fasebj.6.10.1634040

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1634040-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Assessing the underlying pattern of human germline mutations: lessons from the factor IX gene.PMID 1634040Read ↗

Mutations in the factor IX gene (F9) during the past 150 years have relative rates similar to ancient mutations.Semantic proximity Read ↗

Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements.Semantic proximity Read ↗

Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.Semantic proximity Read ↗

Why does the human factor IX gene have a G + C content of 40%?Semantic proximity Read ↗

Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians.Semantic proximity Read ↗

Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online.Semantic proximity Read ↗

The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene.Semantic proximity Read ↗

The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians.Semantic proximity Read ↗

Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation.Semantic proximity Read ↗

Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.Semantic proximity Read ↗

CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series.Semantic proximity Read ↗

Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.