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Volumn 123, Issue 5, 2008, Pages 537-555
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Novel human pathological mutations
a
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Author keywords
[No Author keywords available]
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Indexed keywords
LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2;
METHYL CPG BINDING PROTEIN 2;
NOTCH3 RECEPTOR;
OSTEOCALCIN;
POTASSIUM CHANNEL KCNQ1;
RETINAL SPECIFIC ATP BINDING CASSETTE TRANSPORTER;
SODIUM CHANNEL NAV1.5;
VON WILLEBRAND FACTOR;
PROTEIN;
ADRENAL HYPERPLASIA;
BRUGADA SYNDROME;
CADASIL;
CARDIO FACIO CUTANEOUS SYNDROME;
CENTRONUCLEAR MYOPATHY;
CONGENITAL ERYTHROPOIETIC PORPHYRIA;
CORTICOTROPIN DEFICIENCY;
DANON DISEASE;
DIABETES INSIPIDUS;
ECTODERMAL DYSPLASIA;
EHLERS DANLOS SYNDROME;
EPIDERMOLYSIS BULLOSA;
FABRY DISEASE;
FINNISH VARIANT LATE INFANTILE NEURONAL CEROID LIPOFUSCINOSIS;
GAZE PARALYSIS;
GENE MUTATION;
GENETIC DISORDER;
GLUTARICACIDAEMIA I;
HAPPY PUPPET SYNDROME;
HUMAN;
HUNTER SYNDROME;
LIPOFUSCINOSIS;
LONG QT SYNDROME;
MACULAR DEGENERATION;
MENTAL DEFICIENCY;
MULTIPLE ENDOCRINE NEOPLASIA;
MULTIPLE ENDOCRINE NEOPLASIA TYPE 1;
MYOPATHY;
NOTE;
PRIORITY JOURNAL;
RETINOSCHISIS;
RETT SYNDROME;
SCOLIOSIS;
STARGARDT DISEASE;
STEROID 21 MONOOXYGENASE DEFICIENCY;
SYNDROME CHARGE;
THALASSEMIA;
VON WILLEBRAND DISEASE;
ARTICLE;
FRAMESHIFT MUTATION;
GENETICS;
METABOLISM;
MISSENSE MUTATION;
MUTATION;
PATHOLOGY;
STOP CODON;
CODON, NONSENSE;
FRAMESHIFT MUTATION;
GENETIC DISEASES, INBORN;
HUMANS;
MUTATION;
MUTATION, MISSENSE;
PROTEINS;
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EID: 44649147299
PISSN: 03406717
EISSN: 14321203
Source Type: Journal
DOI: 10.1007/s00439-008-0503-y Document Type: Note |
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Times cited : (7)
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References (0)
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