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Gain-of-Function Amino Acid Substitutions Drive Positive Selection of FGFR2 Mutations in Human Sperm...

Gain-of-Function Amino Acid Substitutions Drive Positive Selection of FGFR2 Mutations in Human Sperm...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_17491787

Gain-of-Function Amino Acid Substitutions Drive Positive Selection of FGFR2 Mutations in Human Spermatogonia

About this item

Full title

Gain-of-Function Amino Acid Substitutions Drive Positive Selection of FGFR2 Mutations in Human Spermatogonia

Publisher

United States: National Academy of Sciences

Journal title

Proceedings of the National Academy of Sciences - PNAS, 2005-04, Vol.102 (17), p.6051-6056

Language

English

Formats

Publication information

Publisher

United States: National Academy of Sciences

More information

Scope and Contents

Contents

Despite the importance of mutation in genetics, there are virtually no experimental data on the occurrence of specific nucleotide substitutions in human gametes. C>G transversions at position 755 of FGF receptor 2 (FGFR2) cause Apert syndrome; this mutation, encoding the gain-of-function substitution Ser252Trp, occurs with a birth rate elevated 200...

Alternative Titles

Full title

Gain-of-Function Amino Acid Substitutions Drive Positive Selection of FGFR2 Mutations in Human Spermatogonia

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_17491787

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_17491787

Other Identifiers

ISSN

0027-8424

E-ISSN

1091-6490

DOI

10.1073/pnas.0500267102

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