A Novel Homozygous Mutation of PKLR Gene in a Pyruvate-Kinase-Deficient Korean Family

Publisher： Karger

E-ISSN： 1421-9662|113|3|208-211

ISSN： 0001-5792

Source： Acta Haematologica, Vol.113, Iss.3, 2005-05, pp. : 208-211

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

Related content

A novel PKLR gene mutation identified using advanced molecular techniques

By  

PEDIATRIC TRANSPLANTATION, Vol. 22, Iss. 2, 2018-03 ,pp. : n/a-n/a

John Wiley & Sons Inc

Access to resources Recommend Favorite

Complete form of pachydermoperiostosis with SLCO2A1 gene mutation in a Korean family

By  

THE JOURNAL OF DERMATOLOGY, Vol. 42, Iss. 6, 2015-06 ,pp. : 655-657

John Wiley & Sons Inc

Access to resources Recommend Favorite

A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

By  

Cytogenetic and Genome Research, Vol. 152, Iss. 1, 2017-06 ,pp. : 16-21

Karger

Access to resources Recommend Favorite

A novel homozygous mutation in the SLCO2A1 gene is associated with severe primary hypertrophic osteoarthropathy phenotype in a Saudi patient

By  

INTERNATIONAL JOURNAL OF DERMATOLOGY, Vol. 54, Iss. 6, 2015-06 ,pp. : e233-e235

John Wiley & Sons Inc

Access to resources Recommend Favorite

A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency

By Remes Anne   Filppula Sirpa   Rantala Heikki   Leisti Jaakko   Ruokonen Aimo   Sharma Satyan   Juffer André   Hiltunen J.  

Journal of Molecular Medicine, Vol. 82, Iss. 8, 2004-08 ,pp. : 550-554

Springer Publishing Company

Access to resources Recommend Favorite