Related references
Note: Only part of the references are listed.Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene
Mariana Q. Alves et al.
MOLECULAR GENETICS AND METABOLISM (2013)
A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India
M. D. Bashyam et al.
BRITISH JOURNAL OF DERMATOLOGY (2012)
Hansa: An Automated Method for Discriminating Disease and Neutral Human nsSNPs
Vishal Acharya et al.
HUMAN MUTATION (2012)
Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β
Murali D. Bashyam et al.
JOURNAL OF CELLULAR BIOCHEMISTRY (2012)
Multiple sequence variants of BRCA2 exon 7 alter splicing regulation
Pascaline Gaildrat et al.
JOURNAL OF MEDICAL GENETICS (2012)
A low prevalence of MYH7/MYBPC3 mutations among Familial Hypertrophic Cardiomyopathy patients in India
Murali D. Bashyam et al.
MOLECULAR AND CELLULAR BIOCHEMISTRY (2012)
Loss of exon identity is a common mechanism of human inherited disease
Timothy Sterne-Weiler et al.
GENOME RESEARCH (2011)
A Large Fraction of Unclassified Variants of the Mismatch Repair Genes MLH1 and MSH2 Is Associated With Splicing Defects
Isabelle Tournier et al.
HUMAN MUTATION (2008)
Autoproteolytic cleavage and activation of human acid ceramidase
Nataly Shtraizent et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family
Akela Radha Rama Devi et al.
JOURNAL OF HUMAN GENETICS (2006)
Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene
MD Bashyam et al.
JOURNAL OF HUMAN GENETICS (2004)
Human acid ceramidase -: Processing, glycosylation, and lysosomal targeting
K Ferlinz et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Molecular analysis of acid ceramidase deficiency in patients with Farber disease
J Bar et al.
HUMAN MUTATION (2001)
Share Paper
