Identification of five novel SPRED1 germline mutations in Legius syndrome

Clinical Genetics

Volumn 80, Issue 1, 2011, Pages 93-96

  Laycock van Spyk, S ^a   Jim, Hp ^a   Thomas, L ^a   Spurlock, G ^a   Fares, L ^a   Palmer Smith, S ^a   Kini, U ^b   Saggar, A ^c   Patton, M ^c   Mautner, V ^d   Pilz, Dt ^a   Upadhyaya, M ^a  

^a Institute of Medical Genetics   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; NEUROFIBROMIN; RAF PROTEIN; RAS PROTEIN; SPROUTY PROTEIN; SPROUTY RELATED EVH1 DOMAIN CONTAINING 1 PROTEIN; UNCLASSIFIED DRUG;

CAFE AU LAIT SPOT; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; LEGIUS SYNDROME; LENTIGO; LETTER; LOSS OF FUNCTION MUTATION; NEUROFIBROMATOSIS; NONHUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION;

ADOLESCENT; ADULT; CAFE-AU-LAIT SPOTS; CHILD; FEMALE; GERM-LINE MUTATION; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS;

EID: 79958136953     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01618.x     Document Type: Letter

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