共 50 条
- [32] DISTINCT MOLECULAR MECHANISMS ASSOCIATED WITH TRUNCATED BETA-SPECTRIN CHAINS IN HEREDITARY ELLIPTOCYTOSIS (HE) CLINICAL RESEARCH, 1990, 38 (03): : A775 - A775
- [34] BETA-SPECTRIN KISSIMMEE - A SPECTRIN VARIANT ASSOCIATED WITH AUTOSOMAL-DOMINANT HEREDITARY SPHEROCYTOSIS AND DEFECTIVE BINDING TO PROTEIN 4.1 JOURNAL OF CLINICAL INVESTIGATION, 1993, 92 (02): : 612 - 616
- [35] ASSIGNMENT OF THE GENE FOR BETA-SPECTRIN (SPTB) TO HUMAN CHROMOSOME-14 CYTOGENETICS AND CELL GENETICS, 1987, 46 (1-4): : 712 - 712
- [37] POINT MUTATION IN THE BETA-SPECTRIN GENE ASSOCIATED WITH ALPHA-I/74 HEREDITARY ELLIPTOCYTOSIS - IMPLICATIONS FOR THE MECHANISM OF SPECTRIN DIMER SELF-ASSOCIATION JOURNAL OF CLINICAL INVESTIGATION, 1990, 86 (03): : 909 - 916
- [40] A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene European Journal of Human Genetics, 2016, 24 : 1826 - 1827