Consanguinity sans reproche

Leo P. Ten Kate; Hans Scheffer; Martina C. Cornel; Joan G. van Lookeren Campagne

doi:https://doi.org/10.1007/BF00202413

Consanguinity sans reproche

Leo P. Ten Kate, Hans Scheffer, Martina C. Cornel, Joan G. van Lookeren Campagne

Human Genetics (VUmc)

Research output: Contribution to journal › Article › Academic › peer-review

15 Citations (Scopus)

Abstract

In a family with two cystic fibrosis (CF) patients and consanguineous parents, DNA analysis showed that the CF in the children was not caused by homozygosity by descent, since two different mutations were involved. A formula is given for calculating the probability that parental consanguinity, if it exists, is causally related to the existence of an autosomal recessive disease in affected children.

Original language	English
Pages (from-to)	295-296
Number of pages	2
Journal	Human genetics
Volume	86
Issue number	3
DOIs	https://doi.org/10.1007/BF00202413
Publication status	Published - 1 Jan 1991

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title = "Consanguinity sans reproche",

abstract = "In a family with two cystic fibrosis (CF) patients and consanguineous parents, DNA analysis showed that the CF in the children was not caused by homozygosity by descent, since two different mutations were involved. A formula is given for calculating the probability that parental consanguinity, if it exists, is causally related to the existence of an autosomal recessive disease in affected children.",

author = "{Ten Kate}, {Leo P.} and Hans Scheffer and Cornel, {Martina C.} and {van Lookeren Campagne}, {Joan G.}",

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AU - van Lookeren Campagne, Joan G.

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N2 - In a family with two cystic fibrosis (CF) patients and consanguineous parents, DNA analysis showed that the CF in the children was not caused by homozygosity by descent, since two different mutations were involved. A formula is given for calculating the probability that parental consanguinity, if it exists, is causally related to the existence of an autosomal recessive disease in affected children.

AB - In a family with two cystic fibrosis (CF) patients and consanguineous parents, DNA analysis showed that the CF in the children was not caused by homozygosity by descent, since two different mutations were involved. A formula is given for calculating the probability that parental consanguinity, if it exists, is causally related to the existence of an autosomal recessive disease in affected children.

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JO - Human genetics

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Consanguinity sans reproche

Abstract

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