Exome Sequencing Identifies A Branch Point Variant in Aarskog-Scott Syndrome

Human Mutation

Volumn 34, Issue 3, 2013, Pages 430-434

  Aten, Emmelien ^a   Sun, Yu ^a   Almomani, Rowida ^a   Santen, Gijs W E ^a   Messemaker, Tobias ^a   Maas, Saskia M ^b   Breuning, Martijn H ^a   Den Dunnen, Johan T ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Aarskog syndrome; Branch point mutations; Exome sequencing; FGD1 protein; RNA splice sites

Indexed keywords

FACIOGENITAL DYSPLASIA 1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; FACIOGENITAL DYSPLASIA; GENE EXPRESSION; GENE SEQUENCE; HUMAN; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA ISOLATION; RNA SPLICING; RNA TRANSLATION;

ABNORMALITIES, MULTIPLE; DWARFISM; EXOME; EXONS; FACE; FEMALE; GENETIC DISEASES, X-LINKED; GENITALIA, MALE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HAND DEFORMITIES, CONGENITAL; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; SEQUENCE ANALYSIS, RNA;

EID: 84873977151     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22252     Document Type: Article

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