Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California

Journal of Molecular Diagnostics

Volumn 15, Issue 5, 2013, Pages 710-722

  Prach, Lisa ^a   Koepke, Ruth ^a   Kharrazi, Martin ^a   Keiles, Steven ^b   Salinas, Danieli B ^c   Reyes, Maria Carmen ^c   Pian, Mark ^d   Opsimos, Harry ^e   Otsuka, Kimberly N ^e   Hardy, Karen Ann ^f   Milla, Carlos E ^g   Zirbes, Jacquelyn M ^g   Chipps, Bradley ^h   O'Bra, Susan ^h   Saeed, Muhammad M ⁱ   Sudhakar, Reddivalam ^j   Lehto, Susan ^j   Nielson, Dennis ^k   Shay, Gregory F ^l   Seastrand, Mary ^l   Jhawar, Sanjay ^m   Nickerson, Bruce ⁿ   Landon, Christopher ^o   Thompson, Ann ^o   Nussbaum, Eliezer ^p,q   Chin, Terry ^q   Wojtczak, Henry ^r   more..

^a CALIFORNIA DEPARTMENT OF PUBLIC HEALTH   (United States)

^b AMBRY GENETICS   (United States)

^c CHILDREN S HOSPITAL LOS ANGELES   (United States)

^d RADY CHILDREN'S HOSPITAL   (United States)

^e LOMA LINDA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f CHILDREN S HOSPITAL OAKLAND   (United States)

^g STANFORD UNIVERSITY   (United States)

^h Sutter Medical Center   (United States)

ⁱ KAISER PERMANENTE MEDICAL CENTER   (United States)

^j CHILDREN S HOSPITAL CENTRAL CALIFORNIA   (United States)

^k UNIVERSITY OF CALIFORNIA   (United States)

^l KAISER PERMANENTE   (United States)

^m UNIVERSITY OF CALIFORNIA   (United States)

ⁿ CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^o VENTURA COUNTY MEDICAL CENTER   (United States)

^p MILLER CHILDREN S HOSPITAL   (United States)

^q UNIVERSITY OF CALIFORNIA   (United States)

^r NAVAL MEDICAL CENTER SAN DIEGO   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CHILD; CYSTIC FIBROSIS; FOLLOW UP; HUMAN; INFANT; MAJOR CLINICAL STUDY; METABOLIC SYNDROME X; NEWBORN SCREENING; PHENOTYPE; UNITED STATES;

ALGORITHMS; ALLELES; CALIFORNIA; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENETIC TESTING; HUMANS; INFANT; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING;

EID: 84882269533     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2013.05.006     Document Type: Article

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