Open AccessMP13-08 GENOTYPING IN CYSTINURIA – DO FIRST DEGREE RELATIVES SHARE A SIMILAR PHENOTYPE?
Author(s) -
Francesca Kum,
Kathie Wong,
Rachel Mein,
Matthew Bultitude,
Kay Thomas
Publication year - 2018
Publication title -
the journal of urology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.402
H-Index - 256
eISSN - 1527-3792
pISSN - 0022-5347
DOI - 10.1016/j.juro.2018.02.480
Subject(s) - cystinuria , first degree relatives , medicine , genotyping , sanger sequencing , penetrance , cohort , genetics , multiplex ligation dependent probe amplification , genotype , phenotype , mutation , family history , gene , biology , exon , cystine , enzyme , biochemistry , cysteine
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