A New δ-Globin Gene Variant: Hb A2-Fengshun [δ121(GH4)Glu→Lys (HBD: c.364G > A)]

Hemoglobin ◽  
2016 ◽  
Vol 40 (3) ◽  
pp. 213-214
Author(s):  
Jin-Mei Yan ◽  
Jian-Ying Zhou ◽  
Xing-Mei Xie ◽  
Jian Li ◽  
Dong-Zhi Li
Keyword(s):  
Globin Gene ◽  
Gene Variant

scholarly journals A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an α2 globin gene variant (Hb Conakry)

1998 ◽  
Vol 103 (4) ◽  
pp. 950-956 ◽  
Author(s):  
Michel Cohen-Solal ◽  
Claude Préhu ◽  
Henri Wajcman ◽  
Claude Poyart ◽  
Josiane Bardakdjian-Michau ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Pyruvate Kinase ◽  
Sickle Cell ◽  
Globin Gene ◽  
Gene Variant ◽  
Disease Phenotype ◽  
Cell Disease ◽  
Pyruvate Kinase Deficiency ◽  
Hb S

A new Unstable α2‐Globin Gene Variant: Hb Chartres [α33(B14)Phe→Ser]

Hemoglobin ◽  
2003 ◽  
Vol 27 (2) ◽  
pp. 111-115 ◽  
Author(s):  
Claude Préhu ◽  
Elodie Mazurier ◽  
Jean Riou ◽  
Jean Kister ◽  
Danielle Promé ◽  
...  
Keyword(s):  
Globin Gene ◽  
Gene Variant

Characterization of Hb Calvino (HBB: c.406G > A): A New Silent β-Globin Gene Variant Found in Coexistence with α-Thalassemia in a Family of African Origin

Hemoglobin ◽  
2014 ◽  
Vol 38 (5) ◽  
pp. 369-372 ◽  
Author(s):  
Maria Marsella ◽  
Gianluca Salvagno ◽  
Bernadetta Dolcini ◽  
Alessandra Ferlini ◽  
Anna Ravani ◽  
...  
Keyword(s):  
Globin Gene ◽  
Gene Variant ◽  
African Origin

I1307K APC gene variant has no clinical implication in Israeli jews at average or high risk for colorectal neoplasia

2001 ◽  
Vol 120 (5) ◽  
pp. A120-A121
Author(s):  
H STRUL ◽  
E BIRENBAUM ◽  
B STERN ◽  
D KAZANOV ◽  
L THEODOR ◽  
...  
Keyword(s):  
High Risk ◽  
Clinical Implication ◽  
Colorectal Neoplasia ◽  
Apc Gene ◽  
Gene Variant

Lower Hepatic Insulin Sensitivity in a Family with a Recently Described Glucokinase Gene Variant

Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 1509-P ◽  
Author(s):  
KÁLMÁN BÓDIS ◽  
OANA P. ZAHARIA ◽  
YANISLAVA KARUSHEVA ◽  
PAVEL BOBROV ◽  
DANIEL F. MARKGRAF ◽  
...  
Keyword(s):  
Insulin Sensitivity ◽  
Gene Variant ◽  
Glucokinase Gene ◽  
Hepatic Insulin Sensitivity

70-LB: Fat Mass and Obesity-Associated rs9939609 Gene Variant Is Related to Fasting Glucose in Children with Mental Health Conditions

Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 70-LB
Author(s):  
ALEJANDRA M. WIEDEMAN ◽  
YING FAI NGAI ◽  
AMANDA M. HENDERSON ◽  
CONSTADINA PANAGIOTOPOULOS ◽  
ANGELA M. DEVLIN
Keyword(s):  
Mental Health ◽  
Fat Mass ◽  
Fasting Glucose ◽  
Health Conditions ◽  
Gene Variant ◽  
Mental Health Conditions
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