Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: A novel genotype-phenotype correlation

European Journal of Human Genetics

Volumn 21, Issue 5, 2013, Pages 535-539

  Ben Shachar, Shay ^a   Constantini, Shlomi ^a   Hallevi, Hen ^a   Sach, Emma K ^b   Upadhyaya, Meena ^c   Evans, Gareth D ^b   Huson, Susan M ^b  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Genotype phenotype correlation; Neurofibromatosis type 1; Neurofibromatosis Noonan syndrome; Non truncating mutations; Watson syndrome

Indexed keywords

NEUROFIBROMIN;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE DELETION; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROFIBROMATOSIS; NONSENSE MUTATION; NOONAN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

COHORT STUDIES; GENOTYPE; HUMANS; LIKELIHOOD FUNCTIONS; MUTATION RATE; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; NOONAN SYNDROME; PHENOTYPE; PULMONARY VALVE STENOSIS;

EID: 84876687584     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.221     Document Type: Article

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