Tumoral calcinosis due to GALNT3 c.516-2A > T mutation in a black African family

Genetic Counseling

Volumn 19, Issue 2, 2008, Pages 183-192

  Laleye, Anatole ^a   Alao, M J ^a   Gbessi, G ^b   Adjagba, M ^a   Marche, M ^d   Coupry, I ^d   Redonnet Vernhet, I ^e   Lepreux, S ^e   Ayivi, B ^c   Darboux, R B ^a   Lacombe, D ^d,e   Arveiler, B ^d,e  

^a UNIVERSITY OF ABOMEY CALAVI   (Benin)

^b Centre National Hospitalier Universitaire Hubert Koutoukou Maga CNHUHKM   (Benin)

^c Service de Pédiatrie et Génétique Médicale   (Benin)

^d UNIVERSITÉ DE BORDEAUX   (France)

^e HÔPITAL PELLEGRIN   (France)

Author keywords

Familial tumoral calcinosis; GALNT3 mutation; Phosphocalcic metabolism disorder

Indexed keywords

APATITE; TRANSFERASE; UDP N ACETYL ALPHA DEXTRO GALACTOSAMINYLTRANSFERASE 3;

ADOLESCENT; ADULT; AMELOGENESIS IMPERFECTA; ARTICLE; BENIN; BIOCHEMISTRY; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFRARED SPECTROMETRY; INTRON; MALE; NEGRO; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TUMOR BIOPSY; TUMOR CALCINOSIS;

EID: 46949104120     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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