Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B.

• Authors: H Ida, O M Rennert, K Maekawa, Y Eto
• Journal: Human mutation (Hum Mutat) Vol. 7 Issue 1 Pg. 65-7 ( 1996) ISSN: 1059-7794 [Print] United States
• PMID: 8664904 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Sphingomyelin Phosphodiesterase

Topics

• Aged
• Amino Acid Sequence
• Base Sequence
• Exons
• Humans
• Japan
• Male
• Molecular Sequence Data
• Mutation
• Niemann-Pick Diseases (genetics)
• Point Mutation
• Polymerase Chain Reaction
• Sequence Analysis, DNA
• Sphingomyelin Phosphodiesterase (genetics)