Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family-Reference-Cited by-同舟云学术

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Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family

Published:2006-09 Issue:9 Volume:51 Page:811-814
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Devi Akela Radha Rama,Gopikrishna Munimanda,Ratheesh Raman,Savithri Gorinabele,Swarnalata Gowrishankar,Bashyam Murali

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg2006124.pdf

Reference12 articles.

1. Bar J, Linke T, Ferlinz K, Neumann U, Schuchman EH, Sandhoff K (2001) Molecular analysis of acid ceramidase deficiency in patients with Farber disease. Hum Mutat 17:199–209

2. Bashyam MD, Bashyam L, Savithri GR, Gopikrishna M, Sangal V, Devi AR (2004) Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene. J Hum Genet 49:408–413

3. Ben-Dor S, Esterman N, Rubin E, Sharon N (2004) Biases and complex patterns in the residues flanking protein N-glycosylation sites. Glycobiology 14:95–101

4. Ferlinz K, Kopal G, Bernardo K, Linke T, Bar J, Breiden B, Neumann U, Lang F, Schuchman EH, Sandhoff K (2001) Human acid ceramidase: processing, glycosylation, and lysosomal targeting. J Biol Chem 276:35352–35360

5. Gatt S (1963) Metabolism of (I-14c)Lignoceric acid in the rat. Biochim Biophys Acta 70:370–380

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