Pages that link to "Q42244700"
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The following pages link to Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variants (Q42244700):
Displaying 16 items.
- Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients (Q24631977) (← links)
- Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs (Q28115641) (← links)
- Molecular basis of acid sphingomyelinase dificiency in a patient with Niemann-Pick disease type A (Q28118575) (← links)
- Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts (Q28254794) (← links)
- Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis (Q33822334) (← links)
- Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD). (Q35585391) (← links)
- Human acid sphingomyelinase structures provide insight to molecular basis of Niemann-Pick disease (Q41450651) (← links)
- A method for enrichment of hybrid somatic cells: complementation studies in certain lysosomal enzymopathies (Q41491200) (← links)
- A model of the acid sphingomyelinase phosphoesterase domain based on its remote structural homolog purple acid phosphatase (Q41949021) (← links)
- Complementation studies in Niemann-Pick disease type C indicate the existence of a second group (Q42658158) (← links)
- Enzyme activities and phospholipid storage patterns in brain and spleen samples from Niemann-Pick disease variants: a comparison of neuropathic and non-neuropathic forms (Q48416168) (← links)
- Niemann-Pick disease (variation in the sphingomyelinase deficient group). Neurovisceral phenotype (A) with an abnormally protracted clinical course and variable expression of neurological symptomatology in three siblings (Q48744983) (← links)
- Niemann-Pick disease (Q69552026) (← links)
- Ocular involvement in Niemann-Pick disease type B (Q70032845) (← links)
- Niemann-Pick disease type B in an Irish family (Q70910043) (← links)
- Studies on pyrophosphate diesterase activity in cultured human fibroblasts: A deficiency in Niemann-Pick disease (Q72922776) (← links)