Work

Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus–Merzbacher disease

Year: 2001

Type: article

Source: Prenatal Diagnosis

DOI: 10.1002/pd.186

Authors: Ken Inoue, Makoto Kanai, Yuzo Tanabe, Takeo Kubota, Catherine D. Kashork, Keiko Wakui, Yoshimitsu Fukushima, James R. Lupski, Lisa G. Shaffer

Institutions: Baylor College of Medicine, Shinshu University, Shinshu University Hospital, Chiba Children's Hospital

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Roswell Park Cancer Institute, Charcot-Marie-Tooth Association, Muscular Dystrophy Association, National Institute of Neurological Disorders and Stroke, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G2875609050, Baylor Intellectual and Developmental Disabilities Research Center, G644223529, CMT Peripheral Neuropathy: IV. Genes and Pathogenesis

OpenAlex ID: W2020639608

FWCI: 0.73

Cites: 20

Cited by: 33

Related to: 10