A rare frameshift mutation in the AGPAT2 gene in a family from gaza with congenital generalized lipodystrophy.

Gorin, Kobi; Golomb, Mordechai; Spitzen, Shoshi; Leitersdorf, Eran; Schurr, Daniel; Haj-Yahia, Arin; Weiss, Ram; Leibowitz, Gil; Durst, Ronen

Gorin, Kobi; Golomb, Mordechai; Spitzen, Shoshi; Leitersdorf, Eran; Schurr, Daniel; Haj-Yahia, Arin; Weiss, Ram; Leibowitz, Gil; Durst, Ronen.

Afiliação

Gorin K; Internal Medicine Division, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Golomb M; Center for Prevention and Treatment of Atherosclerosis, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Spitzen S; Center for Prevention and Treatment of Atherosclerosis, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Leitersdorf E; Center for Prevention and Treatment of Atherosclerosis, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Schurr D; Center for Prevention and Treatment of Atherosclerosis, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Haj-Yahia A; Clalit Health Services, Diabetes Clinic, Jerusalem, Israel.
Weiss R; Pediatric Division, Rambam Medical Center, Haifa, Israel.
Leibowitz G; The Diabetes Unit and the Endocrine Service, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
Durst R; Center for Prevention and Treatment of Atherosclerosis, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

Clin Endocrinol (Oxf) ; 93(2): 212-214, 2020 08.

Article em En | MEDLINE | ID: mdl-32412105

Assuntos

Lipodistrofia Generalizada Congênita; Lipodistrofia; Aciltransferases; Mutação da Fase de Leitura/genética; Humanos; Mutação

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Lipodistrofia Generalizada Congênita / Lipodistrofia Limite: Humans Idioma: En Revista: Clin Endocrinol (Oxf) Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Israel

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