Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.

Mutations in the HEX A gene, encoding the alpha-subunit of beta-hexosaminidase A (Hex A), are the cause of Tay-Sachs disease as well as of juvenile, chronic, and adult GM2 gangliosidoses. We have examined the distribution of three mutations--a 4-nucleotide insertion in exon 11, a G----C transversion...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Paw, B H, Tieu, P T, Kaback, M M, Lim, J, Neufeld, E F
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1990
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683802/
https://ncbi.nlm.nih.gov/pubmed/2220809
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak