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Article

Genetic associations of common deletion polymorphisms in families with Avellino corneal dystrophy.

Biochemical and biophysical research communications - 2 Oct 2009

Park Miey, Kim Dong-Joon, Kim Kwang Joong, Hong Chang Bum, Kim Young Jin, Cheong Hyun Sub, Shin Hyoung Doo, Lee Eun-Ju, Kim Han-Na, Chung Hye Won, Kim Eung Kweon, Lee Jong-Young, Kim Hyung-Lae

Abstract excerpt

Although the locations of many common deletion variants in the human genome are unknown, such deletions may be causative in rare disorders. Deletions can be mapped through the identification of Mendelian inconsistencies in pedigrees. Data for a total of 341,577 SNPs from an ACD family cohort (n=5...

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Share to Corneal Dystrophies, Hereditary
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Linkage Disequilibrium

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Share to Polymorphism, Single Nucleotide

Share to Sequence Deletion

Source

Identifiers

PMID: 19622345
DOI: 10.1016/j.bbrc.2009.07.084

Genes

ACD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19622345-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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