(Q28261796)

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

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scholarly article

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

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Farber lipogranulomatosis

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Erdheim-Chester disease

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author name string

Akela Radha Rama Devi

1

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Munimanda Gopikrishna

2

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Raman Ratheesh

3

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Gorinabele Savithri

4

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Gowrishankar Swarnalata

5

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Murali Bashyam

6

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language of work or name

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publication date

2006

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Journal of Human Genetics

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51

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9

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811-4

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METABOLISM OF (I-14C)LIGNOCERIC ACID IN THE RAT.

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https://pubmed.ncbi.nlm.nih.gov/16951918

12 December 2020

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Human acid ceramidase: processing, glycosylation, and lysosomal targeting

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https://pubmed.ncbi.nlm.nih.gov/16951918

12 December 2020

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Biases and complex patterns in the residues flanking protein N-glycosylation sites

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https://pubmed.ncbi.nlm.nih.gov/16951918

12 December 2020

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A novel leucine to valine mutation in residue 7 of the helix initiation motif of keratin10 leads to bullous congenital ichthyosiform erythroderma

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https://pubmed.ncbi.nlm.nih.gov/16951918

12 December 2020

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Human acid ceramidase gene: novel mutations in Farber disease.

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https://pubmed.ncbi.nlm.nih.gov/16951918

12 December 2020

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Ceramidase Deficiency in Farber's Disease (Lipogranulomatosis)

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https://pubmed.ncbi.nlm.nih.gov/16951918

12 December 2020

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Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome

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https://pubmed.ncbi.nlm.nih.gov/16951918

12 December 2020

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Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene

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https://pubmed.ncbi.nlm.nih.gov/16951918

12 December 2020

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The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression

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https://pubmed.ncbi.nlm.nih.gov/16951918

12 December 2020

based on heuristic

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Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease

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https://pubmed.ncbi.nlm.nih.gov/16951918

12 December 2020

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Autopsy-confirmed familial early-onset Alzheimer disease caused by the l153V presenilin 1 mutation

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https://pubmed.ncbi.nlm.nih.gov/16951918

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of acid ceramidase deficiency in patients with Farber disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16951918

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-006-0019-Z

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