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8,390 results
  1. GAA gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/gaa
    ... of Genes and Diseases from OMIM GLUCOSIDASE, ALPHA, ACID; GAA Gene and Variant Databases NCBI Gene ClinVar References Fukuda ... Yan B, Raben N, Plotz P. The human acid alpha-glucosidase gene is a novel target of the Notch-1/ ...
  2. GBA gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/gba
    ... of Genes and Diseases from OMIM GLUCOSIDASE, BETA, ACID; GBA Gene and Variant Databases NCBI Gene ClinVar References Aharon- ...
  3. ATP8B1 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1297
    ... Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy. Gastroenterology. ... Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol ... gene causes severe neonatal liver disease. J Clin Invest. ...
  4. LIPA gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/lipa
    ... Genes and Diseases from OMIM LIPASE A, LYSOSOMAL ACID; LIPA Gene and Variant Databases NCBI Gene ClinVar References Reiner ...
  5. SMPD1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/smpd1
    ... Genes and Diseases from OMIM SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1 Gene and Variant Databases NCBI Gene ClinVar References Hollak CE, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, ... BJ. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and ...
  6. MT-TE gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mt-te
    ... MYOPATHY, INFANTILE, TRANSIENT; MMIT TRANSFER RNA, MITOCHONDRIAL, GLUTAMIC ACID; MTTE Gene and Variant Databases NCBI Gene ClinVar References Horvath ...
  7. Lysosomal Acid Lipase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK305870
    ... mutation and a dinucleotide deletion in the lysosomal acid lipase gene in two patients with cholesterol ester storage disease. ... splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester ...
  8. Methods - Update on Horizon Scans of Genetic Tests Currently Available for Clinical Use in Cancers - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK305737
    ... an analysis of human chromosomes, deoxyribonucleic acid, ribonucleic acid, genes, and/or gene products (e.g., enzymes and ...
  9. pdfLessonPlan-Science_and_Genetics.pdf 
    https://www.nlm.nih.gov/.../pdf/LessonPlan-Science_and_Genetics.pdf
    ... the illustration. • base pair • cell • chromosome • DNA (Deoxyribonucleic Acid) • double helix* • genes • nucleus Illustration Source: Talking Glossary of Genetic Terms ...
  10. FA2H gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/fa2h
    ... Catalog of Genes and Diseases from OMIM FATTY ACID 2-HYDROXYLASE; FA2H Gene and Variant Databases NCBI Gene ClinVar References Alderson ... Saada A, Elpeleg O. Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and ...
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