Related Experiment Videos

Diversity of cystic fibrosis mutation-screening practices

W W Grody, R J Desnick, N J Carpenter

American Journal of Human Genetics

|May 23, 1998

Abstract

No abstract available in PubMed .

Related Concept Videos

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

Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain-a patient-reported outcome efficacy measure.

Genetics in medicine : official journal of the American College of Medical Genetics·2021

Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations.

Molecular genetics and metabolism reports·2019

Many pitfalls in diagnosis of acute intermittent porphyria: a case report.

BMC research notes·2018

Exome sequencing of extreme clopidogrel response phenotypes identifies B4GALT2 as a determinant of on-treatment platelet reactivity.

Clinical pharmacology and therapeutics·2016

X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.

Clinical genetics·2015

Extended haplotype association study in Crohn's disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3.

Genes and immunity·2013

See all related articles