Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome

Clinical Endocrinology

Volumn 71, Issue 4, 2009, Pages 512-517

  Miranda, Debora M ^a   Wajchenberg, Bernardo L ^b   Calsolari, Maria R ^c   Aguiar, Marcos J ^a   Silva, José M C L ^d   Ribeiro, Marcia G ^e   Fonseca, Cristina ^e   Amaral, Daniela ^e   Boson, Wolfanga L ^a   Resende, Bruna A ^a   De Marco, Luiz ^a  

^a FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

^c Santa Casa de Misericórdia de Belo Horizonte ^*  (Brazil)

^d FEDERAL UNIVERSITY OF PIAUÍ   (Brazil)

^e FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGPAT2 GENE; ARTICLE; BSCL2 GENE; CHILD; CLINICAL ARTICLE; CONGENITAL GENERALIZED LIPODYSTROPHY; DNA FLANKING REGION; DNA POLYMORPHISM; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GEOGRAPHIC DISTRIBUTION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECESSIVE GENE; SCHOOL CHILD;

1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE; ADOLESCENT; ADULT; BRAZIL; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; GTP-BINDING PROTEIN GAMMA SUBUNITS; HUMANS; INFANT; LIPODYSTROPHY, CONGENITAL GENERALIZED; MALE; MUTATION; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 69949134811     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2009.03532.x     Document Type: Article

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