Heterozygote-Detection, page 7

Search results for Heterozygote-Detection

Found 682 articles. Showing from 61 to 70.

American journal of hematology (2000-11-16)
Molecular characterization and PCR detection of a deletional HPFH: application to rapid prenatal diagnosis for compound heterozygotes of this defect with beta-thalassemia in a Chinese family.

Pediatric nephrology (2008-09-26)
Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients.

Clinical biochemistry (2009-07-27)
Validation and comparison of two quantitative real-time PCR assays for direct detection of DMD/BMD carriers.

Clinical nephrology (2002-05-30)
Analysis of the genes SLC7A9 and SLC3A1 in unclassified cystinurics: mutation detection rates and association between variants in SLC7A9 and the disease.

Clinical biochemistry (2009-09-21)
Advantages of the high resolution melting in the detection of BRCA1 or BRCA2 mutation carriers.

Pharmacogenetics (2002-06-03)
Novel detection assay by PCR-RFLP and frequency of the CYP3A5 SNPs, CYP3A5*3 and *6, in a Japanese population.

Statistics in medicine (2008-08-26)
Multiple diseases in carrier probability estimation: accounting for surviving all cancers other than breast and ovary in BRCAPRO.

The Medical journal of Australia (2012-06-25)
Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews.

American journal of ophthalmology (2010-03-29)
Preimplantation genetic diagnosis for stargardt disease.

British journal of haematology (2007-03-19)
A new deletion defect leading to alpha-thalassaemia in a large Dutch Caucasian family.

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