Identification of a novel polymorphism - The duplication of the NPHP1 (nephronophthisis 1) gene [1]

American Journal of Medical Genetics, Part A

Volumn 140, Issue 17, 2006, Pages 1876-1879

  Baris, Hagit ^a   Bejjani, Bassem A ^b,c   Tan, Wen Hann ^a   Coulter, David L ^d   Martin, Judith A ^e   Storm, Andrea L ^f   Burton, Barbara K ^g   Saitta, Sulagna C ^h   Gajecka, Marzena ^c   Ballif, Blake C ^b   Irons, Mira B ^a   Shaffer, Lisa G ^b,c   Kimonis, Virginia E ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b Signature Genomic Laboratories LLC   (United States)

^c WASHINGTON STATE UNIVERSITY   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e Inland Northwest Genetics Clinic   (United States)

^f CHILDREN S HOSPITAL CENTRAL CALIFORNIA   (United States)

^g NORTHWESTERN UNIVERSITY   (United States)

^h UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHILD; CHROMOSOME 2Q; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CYTOGENETICS; DEVELOPMENTAL DISORDER; FEMALE; GENE; GENE DUPLICATION; GENETIC POLYMORPHISM; HUMAN; LETTER; MALE; NEPHRONOPHTHISIS; NPHP1 GENE; PHENOTYPE; PRIORITY JOURNAL;

CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 2; DEVELOPMENTAL DISABILITIES; FEMALE; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; POLYMORPHISM, GENETIC; PROTEINS; SPEECH DISORDERS;

EID: 33748324532     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31390     Document Type: Letter

References (15)

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