Oligonucleotide ligation assay: applications to molecular diagnosis of inherited disorders.

doi:10.1080/00365510151097629

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Article

Oligonucleotide ligation assay: applications to molecular diagnosis of inherited disorders.

Scandinavian journal of clinical and laboratory investigation - 1 Apr 2001

Romppanen E L

Abstract excerpt

Oligonucleotide ligation assay combined with polymerase chain reaction (PCR-OLA) is a technique which can be used for the detection of characterized sequence variations. In the present study, new PCR-OLA methods were developed for the detection of the major mutations causing infantile neuronal ceroid lipofuscinosis (INCLFin), congenital nephrotic syndrome of Finnish type (NPHS1 FinMajor and FinMinor) and medium...

Topics

Enzyme-Linked Immunosorbent Assay
Genetic Carrier Screening
Genetic Diseases, Inborn
Humans
Mutation
Oligonucleotides
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length

Source

Open in PubMed

Identifiers

PMID: 11347979
DOI: 10.1080/00365510151097629

Genes

NPHS1

Variants

Provenance

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