A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome

Clinical Genetics

Volumn 77, Issue 2, 2010, Pages 141-144

  Badura Stronka, M ^a   Jamsheer, A ^a   Materna Kiryluk, A ^b   Sowinska A ^b   Kiryluk, K ^c   Budny, B ^b   Latos Bielenska A ^b  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b NZOZ Center for Medical Genetics   (Poland)

^c Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

CUL4B; Mental retardation; Mutation; XLMR

Indexed keywords

ALANINE; CULLIN; CULLIN 4B; LYSINE; THREONINE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CABEZAS SYNDROME; CASE REPORT; CHILD; CLINICAL FEATURE; EXON; FACE DYSMORPHIA; FOOT MALFORMATION; GENETIC SCREENING; HUMAN; HYPERACTIVITY; HYPERHIDROSIS; INGUINAL HERNIA; INHERITANCE; KERATOSIS; MALE; MENTAL DEFICIENCY; NONSENSE MUTATION; PATHOGENESIS; PHENOTYPE; POLAND; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SIBLING; SPEECH DISORDER; SYNDACTYLY; TREMOR; X LINKED MENTAL RETARDATION;

CODON, NONSENSE; CULLIN PROTEINS; FEMALE; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; PEDIGREE;

EID: 73949155094     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01331.x     Document Type: Article

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