학술논문

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in a Shwachman-Diamond like syndrome

Document Type

Periodical

Author

Elpeleg, Orly; Sanchez-Puig, Nuria; Charrow, Joel; Dor, Talia; Eddin, Adeeb Naser; Gijsbers, Abril; Mendez-Godoy, Alfonso; Altamura, Davide; Siliqi, Dritan; Simanovsky, Natalia; Bautista-Santos, Arnulfo; Kim, Katherine H.; Chacon-Flores, Montserrat

Source

Journal of Medical Genetics. August 2017, Vol. 54 Issue 8, p558, 9 p.

Subject

Genetic aspects
Research
Pancytopenia -- Genetic aspects
Gene mutation -- Research
Gene mutations -- Research

Language

English

ISSN

0022-2593

Online Access

Full Text (ProQuest Central) Full Text (BMJ Journals) Web of Science JCR 저널정보 Scopus Find it@PNU

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