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Article

Prenatal diagnosis of xeroderma pigmentosum group A in Japan.

The Journal of dermatology - 1 Jun 2012

Moriwaki Shinichi, Yamashita Yoshiki, Nakamura Sachiko, Fujita Daisuke, Kohyama Jun, Takigawa Masahiro, Ohmichi Masahide

Abstract excerpt

We performed a prenatal diagnosis for 10 fetuses from nine unrelated Japanese xeroderma pigmentosum complementation group A (XP-A) families. All parents had at least one XP-A child (proband) with a homozygous founder mutation (IVS3-1G>C) in the XPA gene. A genetic analysis was performed by a restriction enzyme; AlwNI fragment length polymorphism of polymerase chain reaction (PCR)-amplified DNA, mostly from...

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Source

Identifiers

PMID: 22168765
DOI: 10.1111/j.1346-8138.2011.01425.x

Genes

XPA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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