# A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Finding useful health information on the Internet can be difficult, but we’re here to help. This page gathers quality information from trusted sources. You can learn more about the disease, visit handpicked websites, and find resources to help you in your daily life. Need more information? Click the menu on the left to find more!

 

Achondrogenesis Type 1B

Get Update

Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Achondrogenesis Type 1B" returned 1 free, full-text review articles. First 1 results:
Achondrogenesis type 1B.
Last Updated: Nov 30, 2018

Full PubMed Review articles matches at NCBI:
1 Free Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Achondrogenesis Type 1B" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
Full PubMed Editorials matches at NCBI:
0 Free Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Achondrogenesis Type 1B" returned 1 free, full-text research articles. First 1 results:
Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B.
Last Updated: Dec 01, 2018

We describe a diastrophic dysplasia (DTDST) gene mutation in a Japanese male fetus with achondrogenesis type 1B and his relatives. Diagnosis in the fetus was based on roentgenographic data and pathological findings of bones and cartilage. Nucleotide sequencing of the DTDST gene demonstrated ...

Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.
Last Updated: Nov 30, 2018

Achondrogenesis type 1B is an autosomal recessive, lethal chondrodysplasia caused by mutations in the gene encoding a sulfate/chloride antiporter of the cell membrane (Superti-Furga, A., Hästbacka, J., Wilcox, W. R., Cohn, D. H., van der Harten, J. J., Rossi, A., Blau, N., Rimoin, ...

Full PubMed Research articles matches at NCBI:
1 Free Research Articles 3 Research Articles