Anderson's disease (chylomicron retention disease): A new mutation in the SARA2 gene associated with muscular and cardiac abnormalities

Clinical Genetics

Volumn 74, Issue 6, 2008, Pages 546-552

  Silvain, M ^a   Bligny, D ^b   Aparicio, T ^c   Laforet D ^d   Grodet, A ^e   Peretti, N ^f   Menard D ^g   Djouadi, F ^h   Jardel, L ^d   Begue D ^b   Walker, F ^c   Schmitz, J ⁱ   Lachaux, M ^f   Aggerbeck, L P ^a   Samson Bouma, Marie Elisabeth ^i,j  

^a CENTRE DE GÉNÉTIQUE MOLÉCULAIRE   (France)

^b RENNES UNIVERSITY HOSPITAL   (France)

^c BICHAT HOSPITAL   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

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

^f EDOUARD HERRIOT HOSPITAL   (France)

^g PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^h CNRS   (France)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

^j INSERM   (France)

more..

Author keywords

Genetic; Human; Intestine; Lipid malabsorption syndrome

Indexed keywords

AMINOTRANSFERASE; CREATINE KINASE; PROTEIN DERIVATIVE; PROTEIN SARA2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; CARDIOVASCULAR DISEASE; CLINICAL ARTICLE; CRANIAL NEUROPATHY; CREATINE KINASE BLOOD LEVEL; DISEASE ASSOCIATION; DNA SEQUENCE; FABRY DISEASE; FEMALE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HEART EJECTION FRACTION; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; LIPID ABSORPTION; MALE; MUSCLE DISEASE; MUTATIONAL ANALYSIS; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION;

EID: 56749154593     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01069.x     Document Type: Article

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