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Article

ALPL Mutations With Dominant-Negative Effect in Infantile Hypophosphatasia Monozygotic Twins.

Human mutation - 1 Jan 2026

Hao Luna, Huang Na, Tao Yilun, Li Hui, Zhuang Juyu, Li Xiaoyun, Hao Zekun, Zhao Feng

Abstract excerpt

Background and Aims: Hypophosphatasia (HPP) is a rare inborn error of metabolism caused by ALPL gene mutations, resulting in deficient tissue-nonspecific alkaline phosphatase (ALP) activity. We investigated genotype-phenotype correlations in a monozygotic female twin pair with infantile HPP. Methods: Peripheral blood samples were collected from two female twins with HPP and their family members. Genomic DNA was...

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Share to Alkaline Phosphatase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41993131
DOI: 10.1155/humu/9913394
PMCID: PMC13080685

Genes

ALPL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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