Work

ThebgAllele Mutation Is Due to a LINE1 Element Retrotransposition

Year: 1997

Type: article

Abstract: tion in the human liver/bone/kidney alkaline phosphatase gene controls and would not cause aberrant splicing, we concluded causing a lethal form of hypophosphatasia.Proc.Natl.Acad.that these base substitutions are polymorphisms.

Source: Genomics

DOI: 10.1006/geno.1997.4740

Authors: C.M. Perou, R.J. Pryor, T.P. Naas, J. Kaplan

Institutions: University of Utah, University of Pennsylvania

Language: English

Topic: Alkaline Phosphatase Research Studies

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

Open Access status: hybrid

Estimated APC paid: $2,980

Funders: National Institutes of Health, National Heart, Lung, and Blood Institute, National Institute of Diabetes and Digestive and Kidney Diseases

Awards: G2214234612, G270163773, Research Training in Hematology, G9000295282

OpenAlex ID: W2046923391

FWCI: 1.545

Cites: 9

Cited by: 26

Related to: 10