Literature DB >> 393321

Penetrance and variability of major malformation syndromes associated with deafness.

L Pinsky.   

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Year:  1979        PMID： 393321

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


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  1 in total

1.  The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.

Authors:  S J Edwards; A J Gladwin; M J Dixon
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025
  1 in total

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