Mutations in the G6PC3 gene cause Dursun syndrome

American Journal of Medical Genetics, Part A

Volumn 152 A, Issue 10, 2010, Pages 2609-2611

  Banka, Siddharth ^a   Newman, William G ^a   Özgül, R Koksal ^b   Dursun, Ali ^b  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Dursun syndrome; G6PC3; Glucose 6 phosphatase; Primary pulmonary hypertension; Severe congenital neutropenia

Indexed keywords

GLUCOSE 6 PHOSPHATASE; G6PC3 PROTEIN, HUMAN;

ANEMIA; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CRYPTORCHISM; DURSUN SYNDROME; FEMALE; GENE MUTATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; HUMAN CELL; INGUINAL HERNIA; LEUKOPENIA; LYMPHOCYTE; LYMPHOCYTOPENIA; MALE; MISSENSE MUTATION; MONOCYTOSIS; MYELODYSPLASTIC SYNDROME; NEUTROPENIA; NUCLEOTIDE SEQUENCE; PIGEON THORAX; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RESPIRATORY DISTRESS; ADULT RESPIRATORY DISTRESS SYNDROME; AMINO ACID SEQUENCE; ANIMAL; CATTLE; CHEMISTRY; GENETICS; HEART SEPTUM DEFECT; MOLECULAR GENETICS; MORTALITY; MOUSE; MUTATION; RAT; SYNDROME;

AMINO ACID SEQUENCE; ANIMALS; CATTLE; CHILD, PRESCHOOL; FEMALE; GLUCOSE-6-PHOSPHATASE; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; HYPERTENSION, PULMONARY; LEUKOPENIA; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NEUTROPENIA; RATS; RESPIRATORY DISTRESS SYNDROME, ADULT; SYNDROME;

EID: 78349290397     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33615     Document Type: Article

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