RFLP discordance in a pku family due to a deletion in the pah gene

Turkish Journal of Pediatrics

Volumn 38, Issue 4, 1996, Pages 497-504

  Bosco, Paolo ^a   Ceratto, Nadia ^a   Cali, Francesco ^a   Goltsov, Alexei A ^b   Eisensmith, Randy C ^b   Novelli, Giuseppe ^c   Piccola, Bruno Dalla ^d   Romano, Valentino ^a  

^a Ist per la Ric sul Ritardo MIC ^*

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF ROME TOR VERGATA   (Italy)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

Classical PKU; PAH gene mutation; RFLP discordance

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; FEMALE; GENE DELETION; GENETICS; HUMAN; MALE; PHENYLKETONURIA; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADOLESCENT; ADULT; FEMALE; GENE DELETION; HUMANS; MALE; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 0030255198     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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