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Article

[Diagnosing achondroplasia by single cell nested-PCR].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2003

Zhong Chang-gao, Li Lu-yun, Lu Chang-fu, Lin Ge, Fu Jun-jiang, Luo Ke-li, Lu Guang-xiu

Abstract excerpt

OBJECTIVE: To research on the reliability of diagnosing achondroplasia (ACH) on single cell level and to provide a basis for preimplantation genetic diagnosis(PGD). METHODS: The high-frequency mutation region G380R of fibroblast growth factor receptor 3(FGFR3) gene was amplified by nested-PCR with single lymphocyte and single blastomere. The products of PCR were digested by restriction enzyme Bfm I, then the...

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Identifiers

PMID: 12778450

Genes

FGFR3
PGD

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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