A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma

Journal of the European Academy of Dermatology and Venereology

Volumn 24, Issue 11, 2010, Pages 1349-1353

  Minder, E I ^a   Schneider Yin, X ^a   Mamet, R ^b   Horev, L ^c   Neuenschwander, S ^d   Baumer, A ^d   Austerlitz, F ^e   Puy, H ^f,g   Schoenfeld, N ^b,h  

^a TRIEMLI HOSPITAL   (Switzerland)

^b RABIN MEDICAL CENTER   (Israel)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^d UNIVERSITY OF ZURICH   (Switzerland)

^e UNIVERSITÉ PARIS SUD   (France)

^f HÔPITAL LOUIS MOURIER   (France)

^g CENTRE DE RECHERCHE BIOMÉDICALE BICHAT BEAUJON CRB3   (France)

^h TEL AVIV UNIVERSITY   (Israel)

Author keywords

Erythropoietic protoporphyria; Ferrochelatase; Homozygosity; Missense mutation; Palmar keratoderma

Indexed keywords

FERROCHELATASE; PROTOPORPHYRIN ZINC;

ARAB; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CHROMOSOME 18; CONSANGUINITY; DISEASE ASSOCIATION; ERYTHROPOIETIC PROTOPORPHYRIA; FLUOROSCOPY; GENETIC ANALYSIS; GENETIC RECOMBINATION; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; JORDAN; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; PALMOPLANTAR KERATODERMA; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 78649747264     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/j.1468-3083.2010.03640.x     Document Type: Article

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