共 50 条
- [31] Novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair JOURNAL OF DERMATOLOGY, 2016, 43 (11): : 1384 - 1385
- [32] Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome Journal of Human Genetics, 2003, 48 : 590 - 593
- [36] A Novel Biallelic Splice Site Variant in the SPARC Gene Causing Severe Osteogenesis Imperfecta Indian Journal of Pediatrics, 2023, 90 : 626 - 626
- [37] A Novel Biallelic Splice Site Variant in the SPARC Gene Causing Severe Osteogenesis Imperfecta INDIAN JOURNAL OF PEDIATRICS, 2023, 90 (06): : 626 - 626