New insights into genotype–phenotype correlation for GLI3 mutations
نویسندگان
چکیده
منابع مشابه
New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.
OBJECTIVE To clarify the genotype-phenotype correlation and elucidate the role of digenic inheritance in cystinuria. METHODS 164 probands from the International Cystinuria Consortium were screened for mutations in SLC3A1 (type A) and SLC7A9 (type B) and classified on the basis of urine excretion of cystine and dibasic amino acids by obligate heterozygotes into 37 type I (silent heterozygotes)...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2014
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2014.62