P.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

European Journal of Human Genetics

Volumn 23, Issue 8, 2015, Pages 1068-1071

  Pinna, Valentina ^a   Lanari, Valentina ^a   Daniele, Paola ^a   Consoli, Federica ^a   Agolini, Emanuele ^a   Margiotti, Katia ^a,b   Bottillo, Irene ^a,c   Torrente, Isabella ^a,d   Bruselles, Alessandro ^e   Fusilli, Caterina ^a   Ficcadenti, Anna ^f   Bargiacchi, Sara ^g   Trevisson, Eva ^h   Forzan, Monica ^h   Giustini, Sandra ⁱ   Leoni, Chiara ^j   Zampino, Giuseppe ^j   Cristina Digilio, Maria ^k   Dallapiccola, Bruno ^k   Clementi, Maurizio ^h   Tartaglia, Marco ^e   De Luca, Alessandro ^a   more..

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY CAMPUS BIO MEDICO   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d SAN CAMILLO FORLANINI HOSPITAL   (Italy)

^e ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^f OSPEDALI RIUNITI   (Italy)

^g UNIVERSITY OF FLORENCE   (Italy)

^h UNIVERSITY OF PADOVA   (Italy)

ⁱ SAPIENZA UNIVERSITY OF ROME   (Italy)

^j CATHOLIC UNIVERSITY   (Italy)

^k BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; NEUROFIBROMIN;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CAFE AU LAIT SPOT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EYE DISEASE; FACIES; FEMALE; GENETIC ASSOCIATION; HETEROZYGOTE; HUMAN; LENTIGO; LISCH NODULE; MALE; MIDDLE AGED; MISSENSE MUTATION; NEUROFIBROMATOSIS TYPE 1; NOONAN SYNDROME; OPTIC NERVE GLIOMA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SKINFOLD; VERY ELDERLY; YOUNG ADULT; GENETIC COUNSELING; GENETICS; NEUROFIBROMA; NEUROFIBROMATOSIS 1; PATHOLOGY; PEDIGREE; PHENOTYPE;

AMINO ACID SUBSTITUTION; GENETIC COUNSELING; HUMANS; MUTATION, MISSENSE; NEUROFIBROMA; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; NOONAN SYNDROME; PEDIGREE; PHENOTYPE;

EID: 84937517366     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.243     Document Type: Article

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