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Updated: Jul 1, 2025

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
11:54

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

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由于父亲的马赛克主义,CCHS相关的PHOX2B多氨酸扩张变异的复发

Huling Jiang1, Zepeng Ping1, Suping Li1

  • 1Department of Prenatal Diagnosis Center, Maternity and Child Health Care Affiliated Hospital, Jiaxing University, Jiaxing 314000, China.

Gene
|March 11, 2024
PubMed
概括

先天性中央低通风综合征 (CCHS) 可能是PHOX2B基因变异的结果. 即使是未受影响的父母也可能表现出生殖线马赛克主义,影响遗传咨询和产前检测,以便在未来怀孕.

关键词:
遗传性中心低通风综合征 (CCHS)疾病复发 疾病复发基因咨询 基因咨询PHOX2B 聚氨酸扩张PHOX2B身体的马赛克主义

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

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