Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate

Clinical Genetics

Volumn 72, Issue 2, 2007, Pages 145-149

  Koivisto, A M ^a   Ala Mello, S ^b   Lemmela S ^a   Komu, H A ^a   Rautio, J ^b   Järvelä, Irma ^a,b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

Cleft lip cleft palate; PHD finger protein 8; PHF8 mutation; X linked mental retardation

Indexed keywords

PHD FINGER PROTEIN 8; PHENYLALANINE; SERINE; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLEFT LIP PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; EXON; FACE DYSMORPHIA; FINLAND; GENETIC SCREENING; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS; UNIVERSITY HOSPITAL; X LINKED MENTAL RETARDATION;

AMINO ACID SEQUENCE; BASE SEQUENCE; CLEFT LIP; CLEFT PALATE; FINLAND; GENETIC SCREENING; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PREVALENCE; SEQUENCE ALIGNMENT; TRANSCRIPTION FACTORS;

EID: 34547862845     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00836.x     Document Type: Article

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