Prenatal diagnosis of classical phenylketonuria by linked restriction fragment length polymorphism analysis | Zendy

Speer A. | Zendy; Bollman R. | Zendy; Michel A. | Zendy; Neumann R | Zendy; Bommer Ch. | Zendy; Hanke R. | Zendy; Riess O. | Zendy; Cobet G. | Zendy; Coutelle Ch. | Zendy

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Prenatal diagnosis of classical phenylketonuria by linked restriction fragment length polymorphism analysis

Author(s) -

Speer A.,

Bollman R.,

Michel A.,

Neumann R,

Bommer Ch.,

Hanke R.,

Riess O.,

Cobet G.,

Coutelle Ch.

Publication year - 1986

Publication title -

prenatal diagnosis

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.956

H-Index - 97

eISSN - 1097-0223

pISSN - 0197-3851

DOI - 10.1002/pd.1970060608

Subject(s) - restriction fragment length polymorphism , genetics , prenatal diagnosis , medicine , polymorphism (computer science) , biology , genotype , pregnancy , fetus , gene

Since the isolation of a recombinant containing a cDNA sequence for human phenylalanine hydroxylase (hPH) (Woo et al. , 1983; Speer et al. , 1986) prenatal diagnosis by linked restriction fragment length polymorphism (RFLPs) has become possible for families in which phenylketonuria (PKU) occurs (Lidsky et al. , 1985a). We describe here the application of a Hind III three‐allele RFLP in a single family, which allowed the prenatal diagnosis of an affected fetus.

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