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Clinical Genetics
Volumn 78, Issue 6, 2010, Pages 601-603
A frameshift mutation in SANS results in atypical Usher syndrome
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Indexed keywords

AMINO ACID;
EID: 78149266656     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01500.x     Document Type: Article
Times cited : (27)
References (9)
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  • 2
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  • 4
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    • A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome
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    • A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene
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    • Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.