Human beta-galactosidase gene mutations in morquio B disease.

Three different beta-galactosidase gene mutations--a 273Trp----Leu (mutation F) in both families, 482Arg----His (mutation G) in one family, and 509Trp----Cys (mutation H) in the other family--were identified in three patients with Morquio B disease who were from two unrelated families. Restriction-s...

Full description

Saved in:
Bibliographic Details
Main Authors: Oshima, A, Yoshida, K, Shimmoto, M, Fukuhara, Y, Sakuraba, H, Suzuki, Y
Format: Artigo
Language:Inglês
Published: 1991
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683264/
https://ncbi.nlm.nih.gov/pubmed/1928092
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items