A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family [3]

American Journal of Human Genetics

Volumn 61, Issue 1, 1997, Pages 233-238

  Ronce, N ^a   Moizard, M P ^a   Robb, L ^a   Toutain, A ^a   Villard, L ^a   Moraine, C ^a  

^a CHU BRETONNEAU   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

CUTIS LAXA; EXON; GENE MUTATION; HUMAN; LETTER; MENKES SYNDROME; OCCIPITAL HORN SYNDROME; PEDIGREE ANALYSIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; X CHROMOSOME LINKED DISORDER;

EID: 0030862748     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0002-9297(07)64297-9     Document Type: Letter

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