Connective tissue disease

Citations 71-73 of 73 total displayed.

Original articles
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)

Peining Li, Amy B Bellows, Jerry N Thompson
J. Med. Genet. 1999; 36: 21-27. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel -N-acetylglucosaminidase gene mutations

Susanna Bunge, Astrid Knigge, Cordula Steglich, Wim J Kleijer, Otto P van Diggelen, Michael Beck, Andreas Gal
J. Med. Genet. 1999; 36: 28-32. [Abstract] [Full text] [PDF] [Request Permissions]  

Original articles
Sotos syndrome and cutis laxa

Stephen P Robertson, Agnes Bankier
J. Med. Genet. 1999; 36: 51-56. [Abstract] [Full text] [PDF] [Request Permissions]