Twenty-five novel mutations including duplications in the ATP7A gene

Clinical Genetics

Volumn 79, Issue 3, 2011, Pages 243-253

  Moizard, M P ^a,b   Ronce, N ^a,b   Blesson, S ^a   Bieth, E ^c   Burglen, L ^d   Mignot, C ^d   Mortemousque, I ^a   Marmin, N ^a   Dessay, B ^a   Danesino, C ^e   Feillet, F ^f   Castelnau, P ^a,b,g   Toutain, A ^a   Moraine, C ^b   Raynaud, M ^a,b  

^a UNIVERSITY HOSPITAL OF TOURS   (France)

^b Physiopathologie et Therapeutique   (France)

^c CHU PURPAN   (France)

^d ARMAND TROUSSEAU HOSPITAL   (France)

^e UNIVERSITY OF PAVIA   (Italy)

^f HÔPITAL D ENFANTS   (France)

^g UNIVERSITÉ DE TOURS   (France)

Author keywords

ATP7A; Duplication; Menkes disease; MRNA splicing mutations; Occipital horn syndrome

Indexed keywords

GENOMIC DNA; MENKES PROTEIN; ADENOSINE TRIPHOSPHATASE; ATP7A PROTEIN, HUMAN; CATION TRANSPORT PROTEIN; RNA SPLICING;

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EHLERS DANLOS SYNDROME; EXON; EXON SKIPPING; FEMALE; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE INSERTION; GENE REARRANGEMENT; HUMAN; INFANT; MALE; MENKES SYNDROME; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OCCIPITAL HORN SYNDROME; PATHOGENESIS; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPLICING DEFECT; CUTIS LAXA; GENE EXPRESSION PROFILING; GENETICS; MULTIPLEX POLYMERASE CHAIN REACTION; PATHOLOGY; RNA SPLICING;

ADENOSINE TRIPHOSPHATASES; CATION TRANSPORT PROTEINS; CUTIS LAXA; EHLERS-DANLOS SYNDROME; EXONS; FEMALE; GENE DUPLICATION; GENE EXPRESSION PROFILING; GENE REARRANGEMENT; HUMANS; MALE; MENKES KINKY HAIR SYNDROME; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION, MISSENSE; POINT MUTATION; RNA SPLICE SITES; SEQUENCE DELETION;

EID: 79551627606     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01461.x     Document Type: Article

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