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Article

[Mutation analysis for two hypophosphatasia families with targeted next-generation sequencing].

Zhonghua yi xue za zhi - 13 Dec 2016

Bai Y, Liu N, Yang J, Guo Y, Kong X D

Abstract excerpt

Objective: To detect the mutations in alkaline phosphatase (ALPL) gene of two Chinese families with perinatal hypophosphatasia (HPP), in order to explore the mechanism of this condition. Methods: Next-generation sequencing (NGS) of osteology system panel was carried out for exome sequencing in the mothers of 2 HPP fetuses, who visited Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou...

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Source

Identifiers

PMID: 27998428
DOI: 10.3760/cma.j.issn.0376-2491.2016.46.006

Genes

ALPL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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