Prenatal diagnosis for a novel homozygous mutation in PKLR gene in an Indian family

Prenatal Diagnosis

Volumn 27, Issue 2, 2007, Pages 117-118

  Gupta, Neerja ^a   Bianchi, Paola ^b   Fermo, Elisa ^b   Kabra, Madhulika ^a   Warang, Prashant ^d   Kedar, Prabhakar ^d   Gupta, Nomeeta ^c   Colah, Roshan ^d  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c Batra Hospital India   (India)

^d NATIONAL INSTITUTE OF IMMUNOHAEMATOLOGY   (India)

Author keywords

Molecular genetics; Prenatal diagnosis; Pyruvate kinase deficiency

Indexed keywords

PYRUVATE KINASE;

ANAMNESIS; ANEMIA; ARTICLE; BLOOD DISEASE; CASE REPORT; CLINICAL FEATURE; DNA DETERMINATION; ENZYME DEFICIENCY; EXCHANGE BLOOD TRANSFUSION; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPERBILIRUBINEMIA; INDIAN; MALE; MOLECULAR GENETICS; PHOTOTHERAPY; PKLR GENE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RARE DISEASE;

CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; HOMOZYGOTE; HUMANS; MALE; METABOLISM, INBORN ERRORS; MOLECULAR BIOLOGY; MUTATION, MISSENSE; PRENATAL DIAGNOSIS; PYRUVATE KINASE;

EID: 33847104116     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1616     Document Type: Article

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