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American Journal of Medical Genetics, Part A

Volumn 155, Issue 1, 2011, Pages 141-144

Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning

(3) Flynn, Maureen a Zou, Ying S a Milunsky, Aubrey a

a BOSTON UNIVERSITY SCHOOL OF MEDICINE (United States)

Author keywords

Gene duplication; Intellectual disability; PQBP1; Renpenning syndrome

Indexed keywords

BINDING PROTEIN; POLYGLUTAMINE BINDING PROTEIN 1; UNCLASSIFIED DRUG;

ADULT; AMNESIA; ARTICLE; BRAIN ATROPHY; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; GENE DUPLICATION; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MALFORMATION SYNDROME; MICROARRAY ANALYSIS; MICROPENIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PATIENT ASSESSMENT; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RENPENNING SYNDROME; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM;

CARRIER PROTEINS; CEREBRAL PALSY; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, X; DISEASE PROGRESSION; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION, X-LINKED; MICROARRAY ANALYSIS; NUCLEAR PROTEINS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 78650651218 PISSN: 15524825 EISSN: 15524833 Source Type: Journal
DOI: 10.1002/ajmg.a.33756 Document Type: Article

Times cited : (12)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.