Related Experiment Videos

DHCR7 and Smith-Lemli-Opitz syndrome

M J Nowaczyk¹, L M Nakamura, J S Waye

¹Department of Pathology and Molecular Medicine, McMaster University and Hamilton Regional Laboratory Medicine Program, Ont. nowaczyk@hhsc.ca

Clinical and Investigative Medicine. Medecine Clinique Et Experimentale

|January 5, 2002

Summary

No abstract available in PubMed .

Related Concept Videos

Articles linked to this work by shared authors, journal, and citation graph.

Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation.

Haemophilia : the official journal of the World Federation of Hemophilia·2017

Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.

International journal of laboratory hematology·2015

Diagnostic testing for α-globin gene disorders in a heterogeneous North American population.

International journal of laboratory hematology·2013

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

Clinical genetics·2004

Detection of severe nondeletional alpha-thalassemia mutations using a single-tube multiplex ARMS assay.

Genetic testing·2002

Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene.

Hemoglobin·2002

See all related articles