Work

Intragenic deletion as a novel type of mutation in Wolman disease

Year: 2011

Type: article

Study design: Case Report

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2011.09.006

Authors: Teresa M. Lee, Mariko Welsh, Sonia Benhamed, Wendy K. Chung

Institutions: Columbia University Irving Medical Center, Columbia University

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, National Heart, Lung, and Blood Institute, National Institute of General Medical Sciences

Awards: G2029616556, Cardiovascular Development and Disease in the Young, Medical Genetics Training Program

OpenAlex ID: W2019517955

FWCI:

Cites: 20

Cited by: 6

Related to: 10