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Article

A missense point mutation in COL10A1 identified with whole-genome deep sequencing in a 7-generation Pakistan dwarf family.

Heredity - 1 Jan 2018

Zhang Chao, Liu Jiaojiao, Iqbal Furhan, Lu Yan, Mustafa Saima, Bukhari Firdous, Lou Haiyi, Fu Ruiqing, Wu Zhendong, Yang Xiong, Bukhari Ihtisham, Aslam Muhammad, Xu Shuhua

Abstract excerpt

Disease-associated variants in the human genome are continually being identified using DNA sequencing technologies that are especially effective for Mendelian disorders. Here we sequenced whole genome to high coverage (>30×) of 6 members of a 7-generation family with dwarfism from a consanguineous tribe in Pakistan to determine the causal variant(s). We identified a missense variant rs111033552 (c.2011T>C...

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Source

Open in PubMed Open full text

Identifiers

PMID: 29234170
DOI: 10.1038/s41437-017-0021-6
PMCID: PMC5837121

Variants

rs111033552

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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