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9 results
  1. Weill-Marchesani Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1114
    ... thrombospondin motifs 10 ADAMTS10 @ LOVD ADAMTS10 ADAMTS10 FBN1 15q21 ​.1 Fibrillin-1 FBN1 @ LOVD FBN1 FBN1 LTBP2 14q24 ​. ... N, Delague V, Loiselet J. Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an ...
  2. Geleophysic Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK11168
    ... like protein 2 ADAMTSL2 database ADAMTSL2 ADAMTSL2 FBN1 15q21 ​.1 Fibrillin-1 FBN1 @ LOVD FBN1 FBN1 LTBP3 11q13 ​. ...
  3. Spastic Paraplegia 11 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1210
    ... Protein Locus-Specific Databases HGMD ClinVar SPG11 SPG11 15q21 ​.1 Spatacsin SPG11 database SPG11 SPG11 Data are compiled ...
  4. Creatine Deficiency Syndromes - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK3794
    ... Guanidinoacetate N-methyltransferase GAMT @ LOVD GAMT GAMT GATM 15q21 ​.1 Glycine amidinotransferase, mitochondrial GATM @ LOVD GATM GATM SLC6A8 ...
  5. Marfan Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1335
    ... Locus Protein Locus-Specific Databases HGMD ClinVar FBN1 15q21 ​.1 Fibrillin-1 FBN1 @ LOVD FBN1 FBN1 Data are ...
  6. NLM Digital Collections - Annual report - National Eye Institute (1994) 
    Publication: [Bethesda, Md.] : National Eye Institute
    resource.nlm.nih.gov/7802080X21
    ... hybridization localized the SDH gene to human chromosome 15q21.1. Northern blot analysis demonstrated that the highest expression ...