Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations

E-ISSN： 1545-5017|62|12|2094-2100

ISSN： 1545-5009

Source： PEDIATRIC BLOOD & CANCER (ELECTRONIC), Vol.62, Iss.12, 2015-12, pp. : 2094-2100

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Novel mutations in KLF1 encoding the In(Lu) phenotype reflect a diversity of clinical presentations

TRANSFUSION, Vol. 58, Iss. 1, 2018-01 ,pp. : 196-199

John Wiley & Sons Inc

Access to resources Recommend Favorite

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

ANNALS OF NEUROLOGY, Vol. 78, Iss. 1, 2015-07 ,pp. : 21-38

John Wiley & Sons Inc

Access to resources Recommend Favorite

Favorable prognosis of biallelic CEBPA gene mutations in acute myeloid leukemia patients: a meta‐analysis

EUROPEAN JOURNAL OF HAEMATOLOGY, Vol. 94, Iss. 5, 2015-05 ,pp. : 439-448

John Wiley & Sons Inc

Access to resources Recommend Favorite

Clinical and radiographic presentations of pulmonary cryptococcosis in immunocompetent patients

By Yang Chih-Jen Hwang Jhi-Jhu Wang Tung-Heng Cheng Meng-Shuan Kang Wan-Yi Chen Tun-Chieh Huang Ming-Shyan

Scandinavian Journal of Infectious Diseases, Vol. 38, Iss. 9, 2006-09 ,pp. : 788-793

Informa Healthcare

Access to resources Recommend Favorite

Two novel missense mutations of STS gene underlie X‐linked recessive ichthyosis: understanding of the mutational and structural spectrum

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Vol. 30, Iss. 9, 2016-09 ,pp. : 1629-1631

John Wiley & Sons Inc

Access to resources Recommend Favorite