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Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.
Clin Chem. 2018 Feb;64(2):336-345. doi: 10.1373/clinchem.2017.278101. Epub 2017 Nov 2.
Clin Chem. 2018.
PMID: 29097507
We measured cases at risk of hemophilia, ornithine transcarbamylase deficiency, cystic fibrosis, beta-thalassemia, mevalonate kinase deficiency, acetylcholine receptor deficiency, and DFNB1 nonsyndromic hearing loss. We correctly differentiated affected and u …
We measured cases at risk of hemophilia, ornithine transcarbamylase deficiency, cystic fibrosis, beta-thalassemia, mevalonate kinase deficie …
Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.
Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC.
Batissoco AC, et al.
Ear Hear. 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad.
Ear Hear. 2009.
PMID: 19125024
OBJECTIVE: Hereditary nonsyndromic deafness is an autosomal recessive condition in about 80% of cases, and point mutations in the GJB2 gene (connexin 26) and two deletions in the GJB6 gene (connexin 30), del(GJB6-D13S1830) and del(GJB6-D13S1854), are r …
OBJECTIVE: Hereditary nonsyndromic deafness is an autosomal recessive condition in about 80% of cases, and point …
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