Discover Community Create You

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

Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant.

Annals of human genetics - 1 May 2015

Park Joonhong, Kim Myungshin, Jang Woori, Chae Hyojin, Kim Yonggoo, Chung Nack-Gyun, Lee Jae-Wook, Cho Bin, Jeong Dae-Chul, Park In Yang, Park Mi Sun

Abstract excerpt

A common ancestral haplotype is strongly suggested in the Korean and Japanese patients with Fanconi anemia (FA), because common mutations have been frequently found: c.2546delC and c.3720_3724delAAACA of FANCA; c.307+1G>C, c.1066C>T, and c.1589_1591delATA of FANCG. Our aim in this study was to in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asian People
Share to DNA Mutational Analysis
Share to Fanconi Anemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fanconi Anemia Complementation Group A Protein

Share to Founder Effect

Share to Haplotypes

Share to Microsatellite Repeats

Share to Republic of Korea

Source

Identifiers

PMID: 25703136
DOI: 10.1111/ahg.12097

Genes

FANCG
FANCA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25703136-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant.PMID 25703136Read ↗

Two common founder mutations of the fanconi anemia group G gene FANCG/XRCC9 in the Japanese population.Semantic proximity Read ↗

Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.Semantic proximity Read ↗

A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain.Semantic proximity Read ↗

Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.Semantic proximity Read ↗

FANCA and FANCG are the major Fanconi anemia genes in the Korean population.Semantic proximity Read ↗

Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa.Semantic proximity Read ↗

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.Semantic proximity Read ↗

In silico study of missense variants of FANCA, FANCC and FANCG genes reveals high risk deleterious alleles predisposing to Fanconi anemia pathogenesis.Semantic proximity Read ↗

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.Semantic proximity Read ↗

The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability.Semantic proximity Read ↗

The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.Semantic proximity Read ↗

Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population.Semantic proximity Read ↗

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