Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

scientific article

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11 is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1136/JMG.2004.024364
P932PMC publication ID1736004
P698PubMed publication ID15744041
P5875ResearchGate publication ID7990120

P50authorAnnachiara De Sandre-GiovannoliQ30423440
Nicolas LevyQ42607195
Valerie DelagueQ57151158
P2093author name stringMégarbané A
Maisonobe T
Grid D
Atweh S
Krahn M
Chaouch M
Hamadouche T
Boccaccio I
Chouery E
Jabbour R
P433issue3
P407language of work or nameEnglishQ1860
P921main subjecthomozygosityQ114049690
P304page(s)260-265
P577publication date2005-03-01
P1433published inJournal of Medical GeneticsQ14640281
P1476titleHomozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11
P478volume42

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cites work (P2860)
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Q24676494Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4
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Q54303481Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).
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